List of MeSH codes (C16)
Encyclopedia
The following is a list of the "C" codes for MeSH
. It is a product of the United States National Library of Medicine
.
Source for content is here. (File "2006 MeSH Trees".)
--- angelman syndrome
--- bardet-biedl syndrome
--- basal cell nevus syndrome --- beckwith-wiedemann syndrome
--- bloom syndrome
--- branchio-oto-renal syndrome
--- cockayne syndrome
--- cri-du-chat syndrome --- de lange syndrome --- down syndrome
--- ectodermal dysplasia
--- ellis-van creveld syndrome
--- focal dermal hypoplasia
--- neurocutaneous syndromes --- gardner syndrome --- holoprosencephaly
--- incontinentia pigmenti
--- laurence-moon syndrome
--- leopard syndrome
--- marfan syndrome
--- mobius syndrome
--- nail-patella syndrome
--- oculocerebrorenal syndrome
--- orofaciodigital syndromes --- poems syndrome
--- prader-willi syndrome
--- proteus syndrome
--- prune belly syndrome
--- rubella syndrome, congenital
--- rubinstein-taybi syndrome
--- short rib-polydactyly syndrome
--- smith-lemli-opitz syndrome
--- waardenburg's syndrome --- wolfram syndrome
--- zellweger syndrome
--- intracranial arteriovenous malformations --- central nervous system vascular malformations --- heart defects, congenital --- aortic coarctation
--- arrhythmogenic right ventricular dysplasia
--- cor triatriatum
--- coronary vessel anomalies --- crisscross heart
--- dextrocardia
--- kartagener syndrome --- ductus arteriosus, patent --- ebstein's anomaly
--- eisenmenger complex --- heart septal defects --- aortopulmonary septal defect
--- endocardial cushion defects --- heart septal defects, atrial --- lutembacher's syndrome
--- trilogy of fallot
--- heart septal defects, ventricular --- hypoplastic left heart syndrome
--- leopard syndrome
--- levocardia
--- marfan syndrome
--- tetralogy of fallot
--- transposition of great vessels --- double outlet right ventricle
--- tricuspid atresia
--- truncus arteriosus, persistent --- pulmonary atresia
--- scimitar syndrome
--- beckwith-wiedemann syndrome
--- branchio-oto-renal syndrome
--- cri-du-chat syndrome --- de lange syndrome --- down syndrome
--- holoprosencephaly
--- prader-willi syndrome
--- rubinstein-taybi syndrome
--- sex chromosome disorders
--- ectodermal dysplasia
--- focal dermal hypoplasia
--- fragile x syndrome
--- gonadal dysgenesis, 46,xy --- gonadal dysgenesis, mixed --- klinefelter syndrome --- orofaciodigital syndromes --- turner syndrome
--- wagr syndrome
--- williams syndrome
--- choledochal cyst --- caroli disease
--- diaphragmatic eventration --- esophageal atresia
--- hirschsprung disease --- intestinal atresia
--- meckel diverticulum
--- wagr syndrome
--- anophthalmos --- blepharophimosis
--- coloboma
--- ectopia lentis
--- hydrophthalmos
--- microphthalmos --- retinal dysplasia
--- twins, conjoined
--- craniofacial abnormalities
--- cleidocranial dysplasia --- craniofacial dysostosis --- hallermann's syndrome --- hypertelorism
--- mandibulofacial dysostosis --- goldenhar syndrome
--- craniosynostoses --- acrocephalosyndactylia
--- holoprosencephaly
--- leopard syndrome
--- maxillofacial abnormalities --- cherubism
--- jaw abnormalities --- cleft palate --- micrognathism
--- pierre robin syndrome
--- prognathism
--- retrognathism
--- microcephaly
--- noonan syndrome
--- orofaciodigital syndromes --- plagiocephaly, nonsynostotic --- platybasia
--- rubinstein-taybi syndrome
--- funnel chest --- gastroschisis
--- hajdu-cheney syndrome
--- hip dislocation, congenital --- klippel-feil syndrome
--- limb deformities, congenital --- ectromelia
--- foot deformities, congenital --- hand deformities, congenital --- lower extremity deformities, congenital --- polydactyly
--- short rib-polydactyly syndrome
--- proteus syndrome
--- syndactyly
--- acrocephalosyndactylia
--- poland syndrome
--- thanatophoric dysplasia
--- upper extremity deformities, congenital --- synostosis
--- craniosynostoses --- acrocephalosyndactylia
--- syndactyly
--- acrocephalosyndactylia
--- poland syndrome
--- dandy-walker syndrome
--- hereditary motor and sensory neuropathies --- charcot-marie-tooth disease
--- refsum disease --- spastic paraplegia, hereditary --- hereditary sensory and autonomic neuropathies --- dysautonomia, familial --- holoprosencephaly
--- hydranencephaly
--- intracranial arteriovenous malformations --- neural tube defects
--- anencephaly
--- arnold-chiari malformation
--- encephalocele
--- meningocele --- meningomyelocele --- spinal dysraphism --- spina bifida cystica --- spina bifida occulta --- septo-optic dysplasia
--- bronchopulmonary sequestration --- choanal atresia
--- cystic adenomatoid malformation of lung, congenital --- kartagener syndrome --- scimitar syndrome
--- tracheobronchomegaly
--- situs inversus
--- dextrocardia
--- kartagener syndrome --- levocardia
--- dyskeratosis congenita
--- ectodermal dysplasia
--- ellis-van creveld syndrome
--- focal dermal hypoplasia
--- neurocutaneous syndromes --- ehlers-danlos syndrome
--- epidermolysis bullosa
--- epidermolysis bullosa acquisita
--- epidermolysis bullosa dystrophica
--- epidermolysis bullosa, junctional --- epidermolysis bullosa simplex
--- ichthyosis
--- ichthyosiform erythroderma, congenital --- hyperkeratosis, epidermolytic --- ichthyosis, lamellar --- ichthyosis vulgaris
--- ichthyosis, x-linked --- sjogren-larsson syndrome
--- incontinentia pigmenti
--- port-wine stain
--- pseudoxanthoma elasticum
--- rothmund-thomson syndrome
--- sclerema neonatorum
--- xeroderma pigmentosum
--- pierre robin syndrome
--- prognathism
--- retrognathism
--- mouth abnormalities --- cleft lip --- cleft palate --- fibromatosis, gingival --- macrostomia
--- microstomia
--- velopharyngeal insufficiency --- tooth abnormalities --- amelogenesis imperfecta
--- dental enamel hypoplasia --- anodontia
--- dens in dente --- dentin dysplasia
--- dentinogenesis imperfecta
--- fused teeth --- odontodysplasia --- tooth, supernumerary
--- thyroid dysgenesis
--- lingual thyroid --- lingual goiter
--- cryptorchidism
--- epispadias
--- frasier syndrome
--- hypospadias
--- multicystic dysplastic kidney
--- nephritis, hereditary --- sex differentiation disorders --- freemartinism --- gonadal dysgenesis
--- gonadal dysgenesis, 46,xx --- gonadal dysgenesis, 46,xy --- gonadal dysgenesis, mixed --- turner syndrome
--- hermaphroditism --- hermaphroditism, true --- pseudohermaphroditism
--- androgen-insensitivity syndrome --- denys-drash syndrome
--- kallmann syndrome
--- klinefelter syndrome --- wagr syndrome
--- elliptocytosis, hereditary --- glucosephosphate dehydrogenase deficiency --- favism --- hemoglobin c disease --- spherocytosis, hereditary --- thalassemia
--- alpha-thalassemia
--- beta-thalassemia
--- afibrinogenemia --- antithrombin iii deficiency
--- bernard-soulier syndrome
--- factor v deficiency --- factor vii deficiency --- factor x deficiency --- factor xi deficiency --- factor xii deficiency --- factor xiii deficiency
--- hemophilia a --- hemophilia b --- hermanski-pudlak syndrome --- hypoprothrombinemias --- protein c deficiency
--- thrombasthenia --- von willebrand disease
--- wiskott-aldrich syndrome
--- beckwith-wiedemann syndrome
--- branchio-oto-renal syndrome
--- cri-du-chat syndrome --- de lange syndrome --- down syndrome
--- holoprosencephaly
--- prader-willi syndrome
--- rubinstein-taybi syndrome
--- sex chromosome disorders
--- ectodermal dysplasia
--- focal dermal hypoplasia
--- fragile x syndrome
--- gonadal dysgenesis, 46,xy --- gonadal dysgenesis, mixed --- klinefelter syndrome --- orofaciodigital syndromes --- turner syndrome
--- wagr syndrome
--- williams syndrome
--- dwarfism
--- achondroplasia
--- cockayne syndrome
--- congenital hypothyroidism
--- laron syndrome
--- mulibrey nanism
--- albinism, ocular --- albinism, oculocutaneous --- hermanski-pudlak syndrome --- piebaldism
--- aniridia
--- wagr syndrome
--- choroideremia
--- corneal dystrophies, hereditary --- fuchs' endothelial dystrophy --- duane retraction syndrome --- gyrate atrophy --- optic atrophies, hereditary --- optic atrophy, hereditary, leber --- optic atrophy, autosomal dominant --- wolfram syndrome
--- retinal dysplasia
--- retinitis pigmentosa
--- usher syndromes
--- dyskeratosis congenita
--- fabry disease --- focal dermal hypoplasia
--- glycogen storage disease type iib --- glycogen storage disease type viii --- granulomatous disease, chronic --- ichthyosis, x-linked --- hemophilia b --- mental retardation, x-linked --- adrenoleukodystrophy
--- coffin-lowry syndrome
--- fragile x syndrome
--- lesch-nyhan syndrome
--- menkes kinky hair syndrome --- mucopolysaccharidosis ii --- pyruvate dehydrogenase complex deficiency disease --- rett syndrome
--- muscular dystrophy, duchenne --- muscular dystrophy, emery-dreifuss --- oculocerebrorenal syndrome
--- pelizaeus-merzbacher disease
--- wiskott-aldrich syndrome
--- hemoglobin c disease --- thalassemia
--- alpha-thalassemia
--- hydrops fetalis
--- beta-thalassemia
--- amyloid neuropathies, familial --- canavan disease
--- cockayne syndrome
--- dystonia musculorum deformans --- gerstmann-straussler-scheinker disease --- hallervorden-spatz syndrome --- hepatolenticular degeneration --- hereditary central nervous system demyelinating diseases --- hereditary motor and sensory neuropathies --- charcot-marie-tooth disease
--- refsum disease --- spastic paraplegia, hereditary --- hereditary sensory and autonomic neuropathies --- dysautonomia, familial --- huntington disease --- lafora disease
--- lesch-nyhan syndrome
--- menkes kinky hair syndrome --- mental retardation, x-linked --- adrenoleukodystrophy
--- coffin-lowry syndrome
--- fragile x syndrome
--- lesch-nyhan syndrome
--- menkes kinky hair syndrome --- mucopolysaccharidosis ii --- pyruvate dehydrogenase complex deficiency disease --- rett syndrome
--- myotonia congenita
--- myotonic dystrophy
--- neurofibromatosis
--- neurofibromatosis 1 --- neurofibromatosis 2 --- neuronal ceroid-lipofuscinosis --- optic atrophies, hereditary --- optic atrophy, hereditary, leber --- optic atrophy, autosomal dominant --- wolfram syndrome
--- rett syndrome
--- spinal muscular atrophies of childhood
--- spinocerebellar degenerations --- friedreich ataxia --- myoclonic cerebellar dyssynergia --- olivopontocerebellar atrophies --- spinocerebellar ataxias --- machado-joseph disease
--- tourette syndrome
--- tuberous sclerosis
--- unverricht-lundborg syndrome
--- albinism, ocular --- albinism, oculocutaneous --- hermanski-pudlak syndrome --- piebaldism
--- alkaptonuria
--- aminoaciduria, renal --- cystinuria
--- hartnup disease
--- carbamoyl-phosphate synthase i deficiency disease --- citrullinemia
--- homocystinuria
--- hyperargininemia --- hyperglycinemia, nonketotic --- hyperhomocysteinemia
--- hyperlysinemias --- maple syrup urine disease
--- multiple carboxylase deficiency
--- biotinidase deficiency
--- holocarboxylase synthetase deficiency
--- ornithine carbamoyltransferase deficiency disease --- phenylketonurias --- phenylketonuria, maternal --- tyrosinemias --- amino acid transport disorders, inborn --- hartnup disease
--- oculocerebrorenal syndrome
--- amyloidosis, familial --- amyloid neuropathies, familial --- cerebral amyloid angiopathy, familial --- brain diseases, metabolic, inborn --- abetalipoproteinemia
--- carbamoyl-phosphate synthase i deficiency disease --- cerebral amyloid angiopathy, familial --- citrullinemia
--- galactosemias --- hartnup disease
--- hepatolenticular degeneration --- homocystinuria
--- hyperargininemia --- hyperglycinemia, nonketotic --- hyperlysinemias --- leigh disease --- lesch-nyhan syndrome
--- lysosomal storage diseases, nervous system --- fucosidosis
--- glycogen storage disease type ii
--- mucolipidoses --- sialic acid storage disease --- sphingolipidoses
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
--- tay-sachs disease
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- maple syrup urine disease
--- melas syndrome --- menkes kinky hair syndrome --- merrf syndrome
--- oculocerebrorenal syndrome
--- ornithine carbamoyltransferase deficiency disease --- peroxisomal disorders --- adrenoleukodystrophy
--- refsum disease --- zellweger syndrome
--- phenylketonurias --- phenylketonuria, maternal --- pyruvate carboxylase deficiency disease --- pyruvate dehydrogenase complex deficiency disease --- tyrosinemias --- carbohydrate metabolism, inborn errors --- carbohydrate-deficient glycoprotein syndrome --- fructose metabolism, inborn errors --- fructose-1,6-diphosphatase deficiency --- fructose intolerance
--- fucosidosis
--- galactosemias --- glycogen storage disease
--- glycogen storage disease type i
--- glycogen storage disease type ii
--- glycogen storage disease type iib --- glycogen storage disease type iii
--- glycogen storage disease type iv
--- glycogen storage disease type v
--- glycogen storage disease type vi
--- glycogen storage disease type vii --- glycogen storage disease type viii --- hyperoxaluria, primary --- lactose intolerance
--- mannosidase deficiency diseases --- alpha-mannosidosis
--- beta-mannosidosis
--- mucolipidoses --- mucopolysaccharidoses --- mucopolysaccharidosis i --- mucopolysaccharidosis ii --- mucopolysaccharidosis iii --- mucopolysaccharidosis iv --- mucopolysaccharidosis vi
--- mucopolysaccharidosis vii --- multiple carboxylase deficiency
--- biotinidase deficiency
--- holocarboxylase synthetase deficiency
--- nesidioblastosis
--- persistent hyperinsulinemia hypoglycemia of infancy --- pyruvate metabolism, inborn errors --- leigh disease --- pyruvate carboxylase deficiency disease --- pyruvate dehydrogenase complex deficiency disease --- cytochrome-c oxidase deficiency --- glucosephosphate dehydrogenase deficiency --- hyperbilirubinemia, hereditary --- crigler-najjar syndrome
--- gilbert disease --- jaundice, chronic idiopathic --- lipid metabolism, inborn errors --- hypercholesterolemia, familial --- hyperlipidemia, familial combined --- hypercholesterolemia, familial --- hyperlipoproteinemia type iv --- hyperlipoproteinemia type iii --- hyperlipoproteinemia type iv --- hyperlipoproteinemia type v --- hypolipoproteinemia
--- abetalipoproteinemia
--- hypobetalipoproteinemia
--- lecithin acyltransferase deficiency --- tangier disease
--- lipoidosis --- cholesterol ester storage disease --- lipoidproteinosis --- neuronal ceroid-lipofuscinosis --- refsum disease --- sjogren-larsson syndrome
--- sphingolipidoses
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
--- tay-sachs disease
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- sea-blue histiocyte syndrome --- wolman disease
--- lipoprotein lipase deficiency, familial --- peroxisomal disorders --- acatalasia
--- adrenoleukodystrophy
--- chondrodysplasia punctata, rhizomelic --- refsum disease --- zellweger syndrome
--- smith-lemli-opitz syndrome
--- xanthomatosis, cerebrotendinous --- lysosomal storage diseases --- cholesterol ester storage disease --- lysosomal storage diseases, nervous system --- fucosidosis
--- glycogen storage disease type ii
--- mucolipidoses --- sialic acid storage disease --- sphingolipidoses
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
--- tay-sachs disease
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- mannosidase deficiency diseases --- alpha-mannosidosis
--- beta-mannosidosis
--- mucopolysaccharidoses --- mucopolysaccharidosis i --- mucopolysaccharidosis ii --- mucopolysaccharidosis iii --- mucopolysaccharidosis iv --- mucopolysaccharidosis vi
--- mucopolysaccharidosis vii --- sphingolipidoses
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
--- tay-sachs disease
--- tay-sachs disease, ab variant --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- sea-blue histiocyte syndrome --- wolman disease
--- metal metabolism, inborn errors --- hemochromatosis --- hepatolenticular degeneration --- hypophosphatasia
--- hypophosphatemia, familial --- menkes kinky hair syndrome --- paralyses, familial periodic --- hypokalemic periodic paralysis
--- paralysis, hyperkalemic periodic --- andersen syndrome --- pseudohypoparathyroidism
--- pseudopseudohypoparathyroidism
--- porphyria, erythropoietic --- porphyrias, hepatic --- coproporphyria, hereditary --- porphyria, acute intermittent --- porphyria cutanea tarda
--- porphyria, hepatoerythropoietic --- porphyria, variegate --- protoporphyria, erythropoietic --- progeria
--- purine-pyrimidine metabolism, inborn errors --- gout
--- arthritis, gouty --- lesch-nyhan syndrome
--- renal tubular transport, inborn errors --- acidosis, renal tubular --- aminoaciduria, renal --- cystinuria
--- hartnup disease
--- cystinosis
--- fanconi syndrome
--- glycosuria, renal --- hypophosphatemia, familial --- oculocerebrorenal syndrome
--- pseudohypoaldosteronism
--- steroid metabolism, inborn errors --- adrenal hyperplasia, congenital --- mineralocorticoid excess syndrome, apparent --- ichthyosis, x-linked --- smith-lemli-opitz syndrome
--- exostoses, multiple hereditary --- hamartoma syndrome, multiple --- li-fraumeni syndrome
--- multiple endocrine neoplasia
--- multiple endocrine neoplasia type 1
--- multiple endocrine neoplasia type 2a --- multiple endocrine neoplasia type 2b
--- wilms tumor --- denys-drash syndrome
--- wagr syndrome
--- Neurofibromatosis
--- neurofibromatosis 1 --- neurofibromatosis 2 --- peutz-jeghers syndrome
--- sturge-weber syndrome
--- albinism, ocular --- albinism, oculocutaneous --- hermanski-pudlak syndrome --- piebaldism
--- cutis laxa
--- dermatitis, atopic --- dyskeratosis congenita
--- ectodermal dysplasia
--- ellis-van creveld syndrome
--- focal dermal hypoplasia
--- neurocutaneous syndromes --- ehlers-danlos syndrome
--- epidermolysis bullosa
--- epidermolysis bullosa dystrophica
--- epidermolysis bullosa, junctional --- epidermolysis bullosa simplex
--- ichthyosiform erythroderma, congenital --- hyperkeratosis, epidermolytic --- ichthyosis, lamellar --- ichthyosis vulgaris
--- ichthyosis, x-linked --- incontinentia pigmenti
--- keratoderma, palmoplantar --- keratoderma, palmoplantar, diffuse --- papillon-lefevre disease
--- keratosis follicularis
--- pemphigus, benign familial --- porokeratosis
--- porphyria, erythropoietic --- porphyrias, hepatic --- coproporphyria, hereditary --- porphyria, acute intermittent --- porphyria cutanea tarda
--- porphyria, hepatoerythropoietic --- porphyria, variegate --- protoporphyria, erythropoietic --- pseudoxanthoma elasticum
--- rothmund-thomson syndrome
--- sjogren-larsson syndrome
--- xeroderma pigmentosum
--- ichthyosis
--- ichthyosiform erythroderma, congenital --- hyperkeratosis, epidermolytic --- ichthyosis, lamellar --- ichthyosis, x-linked --- sjogren-larsson syndrome
--- leukomalacia, periventricular --- respiratory distress syndrome, newborn --- hyaline membrane disease --- retinopathy of prematurity
--- severe combined immunodeficiency
Mesh
Mesh consists of semi-permeable barrier made of connected strands of metal, fiber, or other flexible/ductile material. Mesh is similar to web or net in that it has many attached or woven strands.-Types of mesh:...
. It is a product of the United States National Library of Medicine
United States National Library of Medicine
The United States National Library of Medicine , operated by the United States federal government, is the world's largest medical library. Located in Bethesda, Maryland, the NLM is a division of the National Institutes of Health...
.
Source for content is here. (File "2006 MeSH Trees".)
--- congenital, hereditary, and neonatal diseases and abnormalities
--- abnormalities, multiple
--- alagille syndromeAlagille syndrome
Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the body. Problems associated with the disorder generally become evident in infancy or early childhood...
--- angelman syndrome
Angelman syndrome
Angelman syndrome is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements , frequent laughter or smiling, and usually a happy demeanor....
--- bardet-biedl syndrome
Bardet-Biedl syndrome
The Bardet–Biedl syndrome is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.-Summary of the...
--- basal cell nevus syndrome --- beckwith-wiedemann syndrome
Beckwith-Wiedemann syndrome
Beckwith–Wiedemann syndrome is an overgrowth disorder usually present at birth characterized by an increased risk of childhood cancer and certain congenital features. Originally, Dr...
--- bloom syndrome
Bloom syndrome
Bloom's syndrome , also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. The condition was discovered and first described by dermatologist Dr...
--- branchio-oto-renal syndrome
Branchio-oto-renal syndrome
Branchio-oto-renal syndrome , also known as branciootorenal syndrome or BOR syndrome, is an autosomal dominant genetic disorder involving the kidneys, ears, and neck...
--- cockayne syndrome
Cockayne syndrome
Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
--- cri-du-chat syndrome --- de lange syndrome --- down syndrome
Down syndrome
Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...
--- ectodermal dysplasia
Ectodermal dysplasia
Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities of the ectodermal structures. More than 150 different syndromes have been identified. Despite some of the syndromes having different genetic causes the symptoms are sometimes very similar...
--- ellis-van creveld syndrome
Ellis-van Creveld syndrome
Ellis–van Creveld Syndrome is a rare genetic disorder of the skeletal dysplasia type.-Symptoms:...
--- focal dermal hypoplasia
Focal dermal hypoplasia
Focal dermal hypoplasia is a form of ectodermal dysplasia.It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin.It has been associated with PORCN, on the X chromosome.-External links:...
--- neurocutaneous syndromes --- gardner syndrome --- holoprosencephaly
Holoprosencephaly
Holoprosencephaly is a cephalic disorder in which the prosencephalon fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy...
--- incontinentia pigmenti
Incontinentia pigmenti
Incontinentia Pigmenti is a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system...
--- laurence-moon syndrome
Laurence-Moon syndrome
Laurence–Moon syndrome is a rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, hypogonadism and mental retardation.- Genetics : LMS is inherited in an autosomal recessive manner...
--- leopard syndrome
Leopard syndrome
LEOPARD syndrome - is part of a group called Ras/MAPK pathway syndromes - is a rare autosomal dominant, multisystem disease caused by a...
--- marfan syndrome
Marfan syndrome
Marfan syndrome is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers....
--- mobius syndrome
Mobius syndrome
Möbius syndrome is an extremely rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side. Most people with Möbius syndrome are born with complete facial paralysis and cannot close their eyes or form facial expressions...
--- nail-patella syndrome
Nail-patella syndrome
Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail-patella" can be very misleading because the syndrome often affects many other areas of the...
--- oculocerebrorenal syndrome
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets....
--- orofaciodigital syndromes --- poems syndrome
POEMS syndrome
POEMS syndrome is a rare medical syndrome. It is defined as the combination of a plasma-cell proliferative disorder , polyneuropathy, and effects on many other organ systems. It begins in middle age – the average age at onset is 50 – and affects up to twice as many men as women...
--- prader-willi syndrome
Prader-Willi syndrome
Prader–Willi syndrome is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome...
--- proteus syndrome
Proteus syndrome
Proteus syndrome, also known as Wiedemann's syndrome , is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body....
--- prune belly syndrome
Prune belly syndrome
Prune belly syndrome is a rare, genetic, birth defect affecting about 1 in 40,000 births. About 97% of those affected are male. Prune belly syndrome is a congenital disorder of the urinary system, characterized by a triad of symptoms. The syndrome is named for the mass of wrinkled skin that is...
--- rubella syndrome, congenital
Congenital rubella syndrome
Congenital rubella syndrome can occur in a developing fetus of a pregnant woman who has contracted rubella during her first trimester. If infection occurs 0–28 days before conception, there is a 43% chance the infant will be affected. If the infection occurs 0–12 weeks after conception, there is a...
--- rubinstein-taybi syndrome
Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome , also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected...
--- short rib-polydactyly syndrome
Short rib-polydactyly syndrome
Short rib – polydactyly syndrome is a family of four closely related dysplasias:* I - "Saldino-Noonan type"* II - "Majewski type"* III - "Verma-Naumoff type" * IV - "Beemer-Langer type"-References:...
--- smith-lemli-opitz syndrome
Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome is an autosomal recessive metabolic and developmental congenital disorder that causes the inability to correctly produce or synthesize cholesterol due to a low occurrence of the 7-DHC reductace enzyme.-Symptoms:The signs and symptoms of SLOS syndrome vary widely...
--- waardenburg's syndrome --- wolfram syndrome
Wolfram syndrome
Wolfram syndrome, also called DIDMOAD , is a rare genetic disorder, causing diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders.It was first described in four siblings in 1938 by Dr. Don J...
--- zellweger syndrome
Zellweger syndrome
Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare, congenital disorder, characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called leukodystrophies...
--- abnormalities, radiation-induced
--- cardiovascular abnormalities
--- arterio-arterial fistula --- arteriovenous malformations --- arteriovenous fistulaArteriovenous fistula
An arteriovenous fistula is an abnormal connection or passageway between an artery and a vein. It may be congenital, surgically created for hemodialysis treatments, or acquired due to pathologic process, such as trauma or erosion of an arterial aneurysm....
--- intracranial arteriovenous malformations --- central nervous system vascular malformations --- heart defects, congenital --- aortic coarctation
Aortic coarctation
Coarctation of the aorta, or aortic coarctation, is a congenital condition whereby the aorta narrows in the area where the ductus arteriosus inserts.-Types:There are three types:...
--- arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia , also called arrhythmogenic right ventricular cardiomyopathy or arrhythmogenic right ventricular dysplasia/cardiomyopathy , is an inherited heart disease....
--- cor triatriatum
Cor triatriatum
Cor triatriatum is a congenital heart defect where the left atrium or right atrium is subdivided by a thin membrane, resulting in three atrial chambers . The membrane may be complete or may contain one or more fenestrations of varying size...
--- coronary vessel anomalies --- crisscross heart
Crisscross heart
Crisscross heart is a type of congenital heart defect where the right atrium is closely associated with the left ventricle in space, and the left atrium is closely associated with the right ventricle....
--- dextrocardia
Dextrocardia
Dextrocardia is a congenital defect in which the heart is situated on the right side of the body. There are two main types of dextrocardia: dextrocardia of embryonic arrest and dextrocardia situs inversus...
--- kartagener syndrome --- ductus arteriosus, patent --- ebstein's anomaly
Ebstein's anomaly
Ebstein anomaly is a congenital heart defect in which the opening of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.-Presentation:...
--- eisenmenger complex --- heart septal defects --- aortopulmonary septal defect
Aortopulmonary septal defect
An aortopulmonary septal defect is a heart disorder deriving from disorders of the development of the aorticopulmonary septum.There are numerous types. Types include:* persistent truncus arteriosus* double outlet right ventricle...
--- endocardial cushion defects --- heart septal defects, atrial --- lutembacher's syndrome
Lutembacher's syndrome
Lutembacher's syndrome is a form of congenital heart disease. It is atrial septal defect which involves mitral stenosis.It is named for René Lutembacher....
--- trilogy of fallot
Trilogy of Fallot
-Presentation:It consists of the following:* pulmonary valve stenosis* right ventricular hypertrophy* atrial septal defectThe first two of these are also found in the tetralogy of Fallot. However, the tetralogy has a ventricular septal defect instead of an atrial one, and it also involves an...
--- heart septal defects, ventricular --- hypoplastic left heart syndrome
Hypoplastic left heart syndrome
Hypoplastic left heart syndrome , is a rare congenital heart defect in which the left ventricle of the heart is severely underdeveloped.-Causes:...
--- leopard syndrome
Leopard syndrome
LEOPARD syndrome - is part of a group called Ras/MAPK pathway syndromes - is a rare autosomal dominant, multisystem disease caused by a...
--- levocardia
Levocardia
Levocardia is a medical condition where the heart is on the correct side of the body , but the related structures are on the wrong side, either due to corrected transposition of the great vessels or to situs inversus....
--- marfan syndrome
Marfan syndrome
Marfan syndrome is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers....
--- tetralogy of fallot
Tetralogy of Fallot
Tetralogy of Fallot is a congenital heart defect which is classically understood to involve four anatomical abnormalities...
--- transposition of great vessels --- double outlet right ventricle
Double outlet right ventricle
Double outlet right ventricle is a form of congenital heart disease where both of the great arteries connect to the right ventricle...
--- tricuspid atresia
Tricuspid atresia
Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve. Therefore, there is an absence of right atrioventricular connection. This leads to a hypoplastic or absent right ventricle....
--- truncus arteriosus, persistent --- pulmonary atresia
Pulmonary atresia
Pulmonary atresia is a congenital malformation of the pulmonary valve in which the valve orifice fails to develop. The valve is completely closed thereby obstructing the outflow of blood from the heart to the lungs. The pulmonary valve is located on the right side of the heart between the right...
--- scimitar syndrome
Scimitar syndrome
Scimitar syndrome, or pulmonary venolobar syndrome, is a rare congenital heart defect characterized by anomalous venous return from the right lung. This anomalous pulmonary venous return can be either partial or total...
--- chromosome disorders
--- angelman syndromeAngelman syndrome
Angelman syndrome is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements , frequent laughter or smiling, and usually a happy demeanor....
--- beckwith-wiedemann syndrome
Beckwith-Wiedemann syndrome
Beckwith–Wiedemann syndrome is an overgrowth disorder usually present at birth characterized by an increased risk of childhood cancer and certain congenital features. Originally, Dr...
--- branchio-oto-renal syndrome
Branchio-oto-renal syndrome
Branchio-oto-renal syndrome , also known as branciootorenal syndrome or BOR syndrome, is an autosomal dominant genetic disorder involving the kidneys, ears, and neck...
--- cri-du-chat syndrome --- de lange syndrome --- down syndrome
Down syndrome
Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...
--- holoprosencephaly
Holoprosencephaly
Holoprosencephaly is a cephalic disorder in which the prosencephalon fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy...
--- prader-willi syndrome
Prader-Willi syndrome
Prader–Willi syndrome is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome...
--- rubinstein-taybi syndrome
Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome , also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected...
--- sex chromosome disorders
Sex chromosome disorders
Sex chromosome disorders belong to a group of genetic conditions that are caused or affected by the loss or damage of sex chromosomes.It may refer to:* 47,XXX* 48, XXXX* 49 XXXXY syndrome* 49, XXXXX* Klinefelter's syndrome* Turner syndrome...
--- ectodermal dysplasia
Ectodermal dysplasia
Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities of the ectodermal structures. More than 150 different syndromes have been identified. Despite some of the syndromes having different genetic causes the symptoms are sometimes very similar...
--- focal dermal hypoplasia
Focal dermal hypoplasia
Focal dermal hypoplasia is a form of ectodermal dysplasia.It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin.It has been associated with PORCN, on the X chromosome.-External links:...
--- fragile x syndrome
Fragile X syndrome
Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...
--- gonadal dysgenesis, 46,xy --- gonadal dysgenesis, mixed --- klinefelter syndrome --- orofaciodigital syndromes --- turner syndrome
Turner syndrome
Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...
--- wagr syndrome
WAGR syndrome
WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour , Aniridia , Genitourinary anomalies, and mental Retardation...
--- williams syndrome
Williams syndrome
Williams syndrome is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as...
--- digestive system abnormalities
--- anus, imperforate --- biliary atresiaBiliary atresia
Biliary atresia, also known as "extrahepatic ductopenia" and "progressive obliterative cholangiopathy" is a congenital or acquired disease of the liver and one of the principle forms of chronic rejection of a transplanted liver allograft. As a birth defect in newborn infants, it has an occurrence...
--- choledochal cyst --- caroli disease
Caroli disease
Caroli disease is a rare inherited disorder characterized by dilatation of the intrahepatic bile ducts. There are two types of Caroli disease, the most common being the simple, or isolated case where the bile ducts are widened by ectasia. The second, more complex, cause is commonly known as Caroli...
--- diaphragmatic eventration --- esophageal atresia
Esophageal atresia
Esophageal atresia is a congenital medical condition which affects the alimentary tract. It causes the esophagus to end in a blind-ended pouch rather than connecting normally to the stomach. It comprises a variety of congenital anatomic defects that are caused by an abnormal embryological...
--- hirschsprung disease --- intestinal atresia
Intestinal atresia
Intestinal atresia is a malformation where there is a narrowing or absence of a portion of the intestine. This defect can either occur in the small or large intestine.-Types of intestinal atresia:...
--- meckel diverticulum
--- eye abnormalities
--- aniridiaAniridia
Aniridia is the absence of the iris. Aniridia usually involves both eyes. It can be congenital or caused by a penetrant injury. Isolated aniridia is a congenital disorder which is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia,...
--- wagr syndrome
WAGR syndrome
WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour , Aniridia , Genitourinary anomalies, and mental Retardation...
--- anophthalmos --- blepharophimosis
Blepharophimosis
Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim...
--- coloboma
Coloboma
A coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid or optic disc...
--- ectopia lentis
Ectopia lentis
Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location. A partial dislocation of a lens is termed lens subluxation or subluxated lens; a complete dislocation of a lens is termed lens luxation or luxated lens.-Ectopia lentis in dogs and cats:Although...
--- hydrophthalmos
Hydrophthalmos
Hydrophthalmos is a congenital form of glaucoma....
--- microphthalmos --- retinal dysplasia
Retinal dysplasia
Retinal dysplasia is an eye disease affecting the retina of animals and, less commonly, humans. It is usually a nonprogressive disease and can be caused by viral infections, drugs, vitamin A deficiency, or genetic defects...
--- lymphatic abnormalities
--- lymphangiectasis, intestinal--- monsters
--- anencephalyAnencephaly
Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp...
--- twins, conjoined
--- musculoskeletal abnormalities
--- arthrogryposisArthrogryposis
Arthrogryposis, also known as Arthrogryposis Multiplex Congenita, is a rare congenital disorder that is characterized by multiple joint contractures and can include muscle weakness and fibrosis. It is a non-progressive disease...
--- craniofacial abnormalities
Craniofacial abnormalities
Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones.They are associated with the development of the pharyngeal arches.An example is platybasia.-External links:...
--- cleidocranial dysplasia --- craniofacial dysostosis --- hallermann's syndrome --- hypertelorism
Hypertelorism
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits . In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal...
--- mandibulofacial dysostosis --- goldenhar syndrome
Goldenhar syndrome
Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch...
--- craniosynostoses --- acrocephalosyndactylia
Acrocephalosyndactylia
Acrocephalosyndactylia is the common presentation of craniosynostosis and syndactyly.-Classification:It has several different types:* type 1 - Apert syndrome* type 2 - Apert syndrome* type 3 - Saethre-Chotzen syndrome...
--- holoprosencephaly
Holoprosencephaly
Holoprosencephaly is a cephalic disorder in which the prosencephalon fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy...
--- leopard syndrome
Leopard syndrome
LEOPARD syndrome - is part of a group called Ras/MAPK pathway syndromes - is a rare autosomal dominant, multisystem disease caused by a...
--- maxillofacial abnormalities --- cherubism
Cherubism
Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the temporary chubby-cheeked resemblance to putti, often confused with cherubs, in Renaissance paintings.-Presentation:...
--- jaw abnormalities --- cleft palate --- micrognathism
Micrognathism
Micrognathism is a condition where the jaw is undersized. It is also sometimes called "Mandibular hypoplasia". It is common in infants, but is usually self-corrected during growth, due to the jaws increasing in size. It may be a cause of abnormal tooth alignment and in severe cases can hamper...
--- pierre robin syndrome
Pierre Robin syndrome
Pierre Robin Sequence , also known as Pierre Robin Malformation, is a congenital condition of facial abnormalities in humans. PRS is a sequence: a chain of certain developmental malformations, one entailing the next...
--- prognathism
Prognathism
Prognathism is a term used to describe the positional relationship of the mandible and/or maxilla to the skeletal base where either of the jaws protrudes beyond a predetermined imaginary line in the coronal plane of the skull. In general dentistry, oral and maxillofacial surgery and orthodontics...
--- retrognathism
Retrognathism
Retrognathia is a type of malocclusion which refers to an abnormal posterior positioning of the maxilla or mandible, particularly the mandible, relative to the facial skeleton and soft tissues....
--- microcephaly
Microcephaly
Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...
--- noonan syndrome
Noonan syndrome
Noonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
--- orofaciodigital syndromes --- plagiocephaly, nonsynostotic --- platybasia
Platybasia
Platybasia is a spinal disease of a malformed relationship between the occipital bone and cervical spine.It may be caused by Paget's disease....
--- rubinstein-taybi syndrome
Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome , also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected...
--- funnel chest --- gastroschisis
Gastroschisis
Gastroschisis represents a congenital defect characterized by a defect in the anterior abdominal wall through which the abdominal contents freely protrude. There is no overlying sac and the size of the defect is usually less than 4 cm...
--- hajdu-cheney syndrome
Hajdu-Cheney syndrome
Hajdu–Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome, is an extremely rare autosomal dominant congenital disorder of the connective tissue characterized by severe and excessive bone resorption leading to...
--- hip dislocation, congenital --- klippel-feil syndrome
Klippel-Feil syndrome
Klippel–Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any 2 of the 7 cervical vertebrae....
--- limb deformities, congenital --- ectromelia
Ectromelia
Ectromelia is a congenital condition where long bones are missing or underdeveloped.Examples include:* Amelia* Phocomelia* Hemimelia* Sirenomelia-References:...
--- foot deformities, congenital --- hand deformities, congenital --- lower extremity deformities, congenital --- polydactyly
Polydactyly
Polydactyly or polydactylism , also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes....
--- short rib-polydactyly syndrome
Short rib-polydactyly syndrome
Short rib – polydactyly syndrome is a family of four closely related dysplasias:* I - "Saldino-Noonan type"* II - "Majewski type"* III - "Verma-Naumoff type" * IV - "Beemer-Langer type"-References:...
--- proteus syndrome
Proteus syndrome
Proteus syndrome, also known as Wiedemann's syndrome , is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body....
--- syndactyly
Syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and kangaroo, but is an unusual condition in humans.-Classification:...
--- acrocephalosyndactylia
Acrocephalosyndactylia
Acrocephalosyndactylia is the common presentation of craniosynostosis and syndactyly.-Classification:It has several different types:* type 1 - Apert syndrome* type 2 - Apert syndrome* type 3 - Saethre-Chotzen syndrome...
--- poland syndrome
Poland syndrome
Poland syndrome is a rare birth defect characterized by underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side mostly common on the right...
--- thanatophoric dysplasia
Thanatophoric dysplasia
Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs.-Symptoms:Infants with this condition have disproportionately short arms and legs with extra folds of skin...
--- upper extremity deformities, congenital --- synostosis
Synostosis
Synostosis is the abnormal fusion of neighbor bones. It is a type of dysostosis.Examples of synostoses include: craniosynostosis- being an abnormal fusion of two or more cranial bones, radio-ulnar synostosis- being the abnormal fusion of the radius and ulna bones of the forearm, tarsal coalition -...
--- craniosynostoses --- acrocephalosyndactylia
Acrocephalosyndactylia
Acrocephalosyndactylia is the common presentation of craniosynostosis and syndactyly.-Classification:It has several different types:* type 1 - Apert syndrome* type 2 - Apert syndrome* type 3 - Saethre-Chotzen syndrome...
--- syndactyly
Syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and kangaroo, but is an unusual condition in humans.-Classification:...
--- acrocephalosyndactylia
Acrocephalosyndactylia
Acrocephalosyndactylia is the common presentation of craniosynostosis and syndactyly.-Classification:It has several different types:* type 1 - Apert syndrome* type 2 - Apert syndrome* type 3 - Saethre-Chotzen syndrome...
--- poland syndrome
Poland syndrome
Poland syndrome is a rare birth defect characterized by underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side mostly common on the right...
--- nervous system malformations
--- central nervous system cysts --- arachnoid cysts --- central nervous system vascular malformations --- hemangioma, cavernous, central nervous system --- central nervous system venous angioma --- sinus pericraniiSinus pericranii
Sinus pericranii is a rare disorder characterized by a congenital epicranial venous malformation of the scalp. Sinus pericranii is an abnormal communication between the intracranial and extracranial venous drainage pathways...
--- dandy-walker syndrome
Dandy-Walker syndrome
Dandy–Walker syndrome , or Dandy–Walker complex, is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. A key feature of this syndrome is the partial or even complete absence of the part of the brain located between the two cerebellar hemispheres...
--- hereditary motor and sensory neuropathies --- charcot-marie-tooth disease
Charcot-Marie-Tooth disease
Charcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
--- refsum disease --- spastic paraplegia, hereditary --- hereditary sensory and autonomic neuropathies --- dysautonomia, familial --- holoprosencephaly
Holoprosencephaly
Holoprosencephaly is a cephalic disorder in which the prosencephalon fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy...
--- hydranencephaly
Hydranencephaly
Hydranencephaly, synonym hydroanencephaly, is a type of cephalic disorder.These disorders are congenital conditions that derive from either damage to, or abnormal development of, the fetal nervous system in the earliest stages of development in utero...
--- intracranial arteriovenous malformations --- neural tube defects
Neural tube defects
Neural tube defects are one of the most common birth defects, occurring in approximately one in 1,000 live births in the United States. An NTD is an opening in the spinal cord or brain that occurs very early in human development. In the 2nd week of pregnancy called gastrulation, specialized cells...
--- anencephaly
Anencephaly
Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp...
--- arnold-chiari malformation
Arnold-Chiari malformation
Arnold–Chiari malformation, or often simply Chiari malformation, is a malformation of the brain. It consists of a downward displacement of the cerebellar tonsils through the foramen magnum , sometimes causing non-communicating hydrocephalus as a result of obstruction of cerebrospinal fluid outflow...
--- encephalocele
Encephalocele
Encephalocele, sometimes known by the Latin name cranium bifidum, is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal...
--- meningocele --- meningomyelocele --- spinal dysraphism --- spina bifida cystica --- spina bifida occulta --- septo-optic dysplasia
Septo-optic dysplasia
Septo-optic dysplasia , also known as de Morsier syndrome is a congenital malformation syndrome made manifest by hypoplasia of the optic nerve and absence of the septum pellucidum...
--- respiratory system abnormalities
--- bronchogenic cystBronchogenic cyst
Bronchogenic cysts are small, solitary cysts or sinuses, most typically located in the region of the suprasternal notch or over the manubrium.-Histology:They are lined by respiratory type epithelium, which is characterized by cilia...
--- bronchopulmonary sequestration --- choanal atresia
Choanal atresia
Choanal atresia is a congenital disorder where the back of the nasal passage is blocked, usually by abnormal bony or soft tissue formed during fetal development.-Presentation:It can be unilateral or bilateral....
--- cystic adenomatoid malformation of lung, congenital --- kartagener syndrome --- scimitar syndrome
Scimitar syndrome
Scimitar syndrome, or pulmonary venolobar syndrome, is a rare congenital heart defect characterized by anomalous venous return from the right lung. This anomalous pulmonary venous return can be either partial or total...
--- tracheobronchomegaly
--- situs inversusSitus inversusSitus inversus is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. The normal arrangement is known as situs solitus...
--- dextrocardiaDextrocardia
Dextrocardia is a congenital defect in which the heart is situated on the right side of the body. There are two main types of dextrocardia: dextrocardia of embryonic arrest and dextrocardia situs inversus...
--- kartagener syndrome --- levocardia
Levocardia
Levocardia is a medical condition where the heart is on the correct side of the body , but the related structures are on the wrong side, either due to corrected transposition of the great vessels or to situs inversus....
--- skin abnormalities
--- acrodermatitisAcrodermatitis
Acrodermatitis is a form of dermatitis selectively affecting the hands and feet.Types include:* Acrodermatitis enteropathica* Acropustulosis** Acrodermatitis chronica atrophicans** Papular acrodermatitis of childhood** Dermatitis repens...
--- dyskeratosis congenita
Dyskeratosis congenita
Dyskeratosis congenita , also called Zinsser-Cole-Engman syndrome, is a rare progressive congenital disorder which results in what in some ways resembles premature aging...
--- ectodermal dysplasia
Ectodermal dysplasia
Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities of the ectodermal structures. More than 150 different syndromes have been identified. Despite some of the syndromes having different genetic causes the symptoms are sometimes very similar...
--- ellis-van creveld syndrome
Ellis-van Creveld syndrome
Ellis–van Creveld Syndrome is a rare genetic disorder of the skeletal dysplasia type.-Symptoms:...
--- focal dermal hypoplasia
Focal dermal hypoplasia
Focal dermal hypoplasia is a form of ectodermal dysplasia.It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin.It has been associated with PORCN, on the X chromosome.-External links:...
--- neurocutaneous syndromes --- ehlers-danlos syndrome
Ehlers-Danlos syndrome
Ehlers–Danlos syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen . The collagen in connective tissue helps tissues to resist deformation...
--- epidermolysis bullosa
Epidermolysis bullosa
Epidermolysis bullosa is an inherited connective tissue disease causing blisters in the skin and mucosal membranes, with an incidence of 1/50,000. Its severity ranges from mild to lethal. It is caused by a mutation in the keratin or collagen gene....
--- epidermolysis bullosa acquisita
Epidermolysis bullosa acquisita
Epidermolysis bullosa acquisita is a chronic subepidermal blistering disease associated with autoimmunity to type VII collagen within anchoring fibril structures that are located at the dermal-epidermal junction....
--- epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica or Dystrophic EB is an inherited disease affecting the skin and other organs. "Butterfly children" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly.-Causes:DEB is caused by genetic defects...
--- epidermolysis bullosa, junctional --- epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.-Subtypes:...
--- ichthyosis
Ichthyosis
Ichthyosis is a heterogeneous family of at least 28, generalized, mostly genetic skin disorders. All types of ichthyosis have dry, thickened, scaly or flaky skin...
--- ichthyosiform erythroderma, congenital --- hyperkeratosis, epidermolytic --- ichthyosis, lamellar --- ichthyosis vulgaris
Ichthyosis vulgaris
Ichthyosis vulgaris is a skin disorder causing dry, scaly skin. It is the most common form of ichthyosis, affecting around 1 in 250 people. For this reason it is known as common ichthyosis...
--- ichthyosis, x-linked --- sjogren-larsson syndrome
Sjögren-Larsson syndrome
Sjögren–Larsson syndrome is an autosomal recessive form of ichthyosis apparent at birth.-Causes:It is associated with a deficiency of the enzyme "fatty aldehyde dehydrogenase"...
--- incontinentia pigmenti
Incontinentia pigmenti
Incontinentia Pigmenti is a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system...
--- port-wine stain
Port-wine stain
A port-wine stain or naevus flammeus is a vascular anomaly consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discoloration of the skin. They are so called for their colour, resembling that of port wine...
--- pseudoxanthoma elasticum
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum , also known as Grönblad–Strandberg syndrome, is a genetic disease that causes fragmentation and mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis...
--- rothmund-thomson syndrome
Rothmund-Thomson syndrome
Rothmund–Thomson syndrome , also known as poikiloderma atrophicans with cataract or poikiloderma congenitale, is a rare autosomal recessive skin condition originally described by August von Rothmund in 1868. Matthew Sydney Thomson published further descriptions in 1936.There have been several...
--- sclerema neonatorum
Sclerema neonatorum
Sclerema neonatorum is a rare a severe skin condition that is characterized by inflammation of the underlying subcutaneous fat.- References :...
--- xeroderma pigmentosum
Xeroderma pigmentosum
Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small. Multiple basal cell carcinomas and other skin...
--- stomatognathic system abnormalities
--- maxillofacial abnormalities --- jaw abnormalities --- cleft palate --- micrognathismMicrognathism
Micrognathism is a condition where the jaw is undersized. It is also sometimes called "Mandibular hypoplasia". It is common in infants, but is usually self-corrected during growth, due to the jaws increasing in size. It may be a cause of abnormal tooth alignment and in severe cases can hamper...
--- pierre robin syndrome
Pierre Robin syndrome
Pierre Robin Sequence , also known as Pierre Robin Malformation, is a congenital condition of facial abnormalities in humans. PRS is a sequence: a chain of certain developmental malformations, one entailing the next...
--- prognathism
Prognathism
Prognathism is a term used to describe the positional relationship of the mandible and/or maxilla to the skeletal base where either of the jaws protrudes beyond a predetermined imaginary line in the coronal plane of the skull. In general dentistry, oral and maxillofacial surgery and orthodontics...
--- retrognathism
Retrognathism
Retrognathia is a type of malocclusion which refers to an abnormal posterior positioning of the maxilla or mandible, particularly the mandible, relative to the facial skeleton and soft tissues....
--- mouth abnormalities --- cleft lip --- cleft palate --- fibromatosis, gingival --- macrostomia
Macrostomia
Macrostomia refers to a mouth that is unusually wide.Some cases are treated with surgery.-References:...
--- microstomia
Microstomia
Microstomia is a clinical feature of many craniofacial syndromes, including Freeman-Sheldon syndrome and Sheldon-Hall syndromes . It may present with whistling-face feature, as well, as in Freeman-Sheldon syndrome...
--- velopharyngeal insufficiency --- tooth abnormalities --- amelogenesis imperfecta
Amelogenesis imperfecta
Amelogenesis imperfecta presents with abnormal formation of the enamel or external layer of teeth. Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it...
--- dental enamel hypoplasia --- anodontia
Anodontia
In dentistry, anodontia, also called anodontia vera, is a rare genetic disorder characterized by the congenital absence of all primary or permanent teeth. It is associated with the group of skin and nerve syndromes called the ectodermal dysplasias...
--- dens in dente --- dentin dysplasia
Dentin dysplasia
Dentin dysplasia is a genetic disorder of teeth, commonly exhibiting an autosomal dominant inheritance. It is characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. There are two types. Type I is the radicular type, and type II is the coronal type...
--- dentinogenesis imperfecta
Dentinogenesis imperfecta
Dentinogenesis imperfecta is a genetic disorder of tooth development. This condition causes teeth to be discolored and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary teeth and permanent teeth...
--- fused teeth --- odontodysplasia --- tooth, supernumerary
--- thyroid dysgenesisThyroid dysgenesisThyroid agenesis is a cause of congenital hypothyroidism where the thyroid is missing, ectopic, or severely underdeveloped....
--- lingual thyroid --- lingual goiter--- urogenital abnormalities
--- bladder exstrophyBladder exstrophy
Bladder exstrophy is a congenital anomality in which part of the urinary bladder is present outside the body. It is rare, occurring once every 10,000 to 50,000 live births with a 2:1 male:female ratio. The diagnosis involves a spectrum of anomalies of the lower abdominal wall, bladder, anterior...
--- cryptorchidism
Cryptorchidism
Cryptorchidism is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at...
--- epispadias
Epispadias
An epispadias is a rare type of malformation of the penis in which the urethra ends in an opening on the upper aspect of the penis. It can also develop in females when the urethra develops too far anteriorly...
--- frasier syndrome
Frasier syndrome
Frasier syndrome is a urogenital anomaly associated with WT1.It was first characterized in 1964.-Presentation:Frasier syndrome presents at birth with male pseudohermaphroditism , streak gonads and progressive glomerulonephropathy...
--- hypospadias
Hypospadias
Hypospadias is a birth defect of the urethra in the male that involves an abnormally placed urinary meatus...
--- multicystic dysplastic kidney
Multicystic dysplastic kidney
Multicystic dysplastic kidney is a condition that results from the malformation of the kidney during fetal development. The kidney consists of irregular cysts of varying sizes and has no function....
--- nephritis, hereditary --- sex differentiation disorders --- freemartinism --- gonadal dysgenesis
Gonadal dysgenesis
Gonadal dysgenesis is a term used to describe multiple reproductive system development disorders. They are conditions of genetic origin. It is characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo....
--- gonadal dysgenesis, 46,xx --- gonadal dysgenesis, 46,xy --- gonadal dysgenesis, mixed --- turner syndrome
Turner syndrome
Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...
--- hermaphroditism --- hermaphroditism, true --- pseudohermaphroditism
Pseudohermaphroditism
Pseudohermaphroditism, or pseudo-hermaphroditism, is the condition in which an organism is born with secondary sex characteristics or a phenotype that is different from what would be expected on the basis of the gonadal tissue ....
--- androgen-insensitivity syndrome --- denys-drash syndrome
Denys-Drash syndrome
Denys-Drash syndrome is a syndrome characterized by the following conditions:* gonadal dysgenesis* nephropathy* Wilms tumorDenys-Drash Syndrome is a very rare disorder.- Etiology :...
--- kallmann syndrome
Kallmann syndrome
Kallmann syndrome is a genetic disorder marked by anosmia and hypogonadism - the decreased functioning of the glands that produce sex hormones. Abnormalities in various genes may cause a defect in the hypothalamus, causing a deficiency of gonadotropin-releasing hormone ; this in turn causes...
--- klinefelter syndrome --- wagr syndrome
WAGR syndrome
WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour , Aniridia , Genitourinary anomalies, and mental Retardation...
--- erythroblastosis, fetal
--- hydrops fetalisHydrops fetalis
Hydrops fetalis is a condition in the fetus characterized by an accumulation of fluid, or edema, in at least two fetal compartments. By comparison, hydrops allantois or hydrops amnion are an accumulation of excessive fluid in the allantoic or amniotic space respectively.-Presentation:Locations can...
--- adrenal hyperplasia, congenital
--- anemia, hemolytic, congenital
--- anemia, dyserythropoietic, congenital --- anemia, hemolytic, congenital nonspherocytic --- anemia, sickle cell --- hemoglobin sc disease --- sickle cell traitSickle cell trait
Sickle cell trait describes a condition in which a person has one abnormal allele of the hemoglobin beta gene , but does not display the severe symptoms of sickle cell disease that occur in a person who has two copies of that allele...
--- elliptocytosis, hereditary --- glucosephosphate dehydrogenase deficiency --- favism --- hemoglobin c disease --- spherocytosis, hereditary --- thalassemia
Thalassemia
Thalassemia is an inherited autosomal recessive blood disease that originated in the Mediterranean region. In thalassemia the genetic defect, which could be either mutation or deletion, results in reduced rate of synthesis or no synthesis of one of the globin chains that make up hemoglobin...
--- alpha-thalassemia
Alpha-thalassemia
Alpha-thalassemia is a form of thalassemia involving the genes HBA1 and HBA2. Alpha-thalassemia is due to impaired production of 1,2,3, or 4 alpha globin chains, leading to a relative excess of beta globin chains...
--- beta-thalassemia
Beta-thalassemia
Beta-thalassemias are a group of inherited blood disorders caused by reduced or absent synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated...
--- anemia, hypoplastic, congenital
--- anemia, diamond-blackfan --- fanconi anemiaFanconi anemia
Fanconi anemia is a genetic disease with an incidence of 1 per 350,000 births, with a higher frequency in Ashkenazi Jews and Afrikaners in South Africa.FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair...
--- blood coagulation disorders, inherited
--- activated protein c resistanceActivated protein C resistance
Activated protein C resistance is a hemostatic disorder characterized by a poor anticoagulant response to activated protein C . This results in an increased risk of venous thrombosis, which can cause heart attacks, strokes, and other problems with circulation.The disorder can be acquired or...
--- afibrinogenemia --- antithrombin iii deficiency
Antithrombin III deficiency
Antithrombin III deficiency is a rare hereditary disorder that generally comes to light when a patient suffers recurrent venous thrombosis and pulmonary embolism...
--- bernard-soulier syndrome
Bernard-Soulier syndrome
Bernard–Soulier syndrome , also called hemorrhagiparous thrombocytic dystrophy, is a rare autosomal recessive coagulopathy that causes a deficiency of glycoprotein Ib , the receptor for von Willebrand factor, which is important in clot formation.The incidence is estimated to be less than 1 in 1...
--- factor v deficiency --- factor vii deficiency --- factor x deficiency --- factor xi deficiency --- factor xii deficiency --- factor xiii deficiency
Factor XIII deficiency
Factor XIII deficiency may occur very rarely, and can cause a severe bleeding tendency. Incidence is 1 in a million to 1 in 5 million people. Most are due to mutations in the A subunit. Administration of recombinant A subunit improves clot stability and is becoming a therapeutic option for patients...
--- hemophilia a --- hemophilia b --- hermanski-pudlak syndrome --- hypoprothrombinemias --- protein c deficiency
Protein C deficiency
Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. The disease belongs to a group of genetic disorders known as thrombophilias. The prevalence of protein C deficiency has been estimated to about 0.2% to 0.5% of the general population...
--- thrombasthenia --- von willebrand disease
Von Willebrand disease
von Willebrand disease is the most common hereditary coagulation abnormality described in humans, although it can also be acquired as a result of other medical conditions. It arises from a qualitative or quantitative deficiency of von Willebrand factor , a multimeric protein that is required for...
--- wiskott-aldrich syndrome
Wiskott-Aldrich syndrome
Wiskott–Aldrich syndrome is a rare X-linked recessive disease characterized by eczema, thrombocytopenia , immune deficiency, and bloody diarrhea . It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954...
--- cardiomyopathy, hypertrophic, familial
--- chromosome disorders
--- angelman syndromeAngelman syndrome
Angelman syndrome is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements , frequent laughter or smiling, and usually a happy demeanor....
--- beckwith-wiedemann syndrome
Beckwith-Wiedemann syndrome
Beckwith–Wiedemann syndrome is an overgrowth disorder usually present at birth characterized by an increased risk of childhood cancer and certain congenital features. Originally, Dr...
--- branchio-oto-renal syndrome
Branchio-oto-renal syndrome
Branchio-oto-renal syndrome , also known as branciootorenal syndrome or BOR syndrome, is an autosomal dominant genetic disorder involving the kidneys, ears, and neck...
--- cri-du-chat syndrome --- de lange syndrome --- down syndrome
Down syndrome
Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...
--- holoprosencephaly
Holoprosencephaly
Holoprosencephaly is a cephalic disorder in which the prosencephalon fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy...
--- prader-willi syndrome
Prader-Willi syndrome
Prader–Willi syndrome is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome...
--- rubinstein-taybi syndrome
Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome , also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected...
--- sex chromosome disorders
Sex chromosome disorders
Sex chromosome disorders belong to a group of genetic conditions that are caused or affected by the loss or damage of sex chromosomes.It may refer to:* 47,XXX* 48, XXXX* 49 XXXXY syndrome* 49, XXXXX* Klinefelter's syndrome* Turner syndrome...
--- ectodermal dysplasia
Ectodermal dysplasia
Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities of the ectodermal structures. More than 150 different syndromes have been identified. Despite some of the syndromes having different genetic causes the symptoms are sometimes very similar...
--- focal dermal hypoplasia
Focal dermal hypoplasia
Focal dermal hypoplasia is a form of ectodermal dysplasia.It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin.It has been associated with PORCN, on the X chromosome.-External links:...
--- fragile x syndrome
Fragile X syndrome
Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...
--- gonadal dysgenesis, 46,xy --- gonadal dysgenesis, mixed --- klinefelter syndrome --- orofaciodigital syndromes --- turner syndrome
Turner syndrome
Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...
--- wagr syndrome
WAGR syndrome
WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour , Aniridia , Genitourinary anomalies, and mental Retardation...
--- williams syndrome
Williams syndrome
Williams syndrome is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as...
--- dwarfismDwarfismDwarfism is short stature resulting from a medical condition. It is sometimes defined as an adult height of less than 4 feet 10 inches , although this definition is problematic because short stature in itself is not a disorder....
--- achondroplasiaAchondroplasia
Achondroplasia dwarfism occurs as a sporadic mutation in approximately 85% of cases or may be inherited in an autosomal dominant genetic disorder that is a common cause of dwarfism...
--- cockayne syndrome
Cockayne syndrome
Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
--- congenital hypothyroidism
Congenital hypothyroidism
Congenital hypothyroidism is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism...
--- laron syndrome
Laron syndrome
Laron syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an insensitivity to growth hormone , caused by a variant of the growth hormone receptor. It causes short stature and a resistance to diabetes and cancer....
--- mulibrey nanism
Mulibrey nanism
Mulibrey nanism , also called Perheentupa syndrome and pericardial constriction with growth failure, is a rare autosomal recessive congenital disorder. It causes severe growth failure along with abnormalities of the heart, muscle, liver, brain and eye...
--- eye diseases, hereditary
--- albinismAlbinism
Albinism is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin...
--- albinism, ocular --- albinism, oculocutaneous --- hermanski-pudlak syndrome --- piebaldism
Piebaldism
Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead....
--- aniridia
Aniridia
Aniridia is the absence of the iris. Aniridia usually involves both eyes. It can be congenital or caused by a penetrant injury. Isolated aniridia is a congenital disorder which is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia,...
--- wagr syndrome
WAGR syndrome
WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour , Aniridia , Genitourinary anomalies, and mental Retardation...
--- choroideremia
Choroideremia
Choroideremia is an X-linked recessive retinal degenerative disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye....
--- corneal dystrophies, hereditary --- fuchs' endothelial dystrophy --- duane retraction syndrome --- gyrate atrophy --- optic atrophies, hereditary --- optic atrophy, hereditary, leber --- optic atrophy, autosomal dominant --- wolfram syndrome
Wolfram syndrome
Wolfram syndrome, also called DIDMOAD , is a rare genetic disorder, causing diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders.It was first described in four siblings in 1938 by Dr. Don J...
--- retinal dysplasia
Retinal dysplasia
Retinal dysplasia is an eye disease affecting the retina of animals and, less commonly, humans. It is usually a nonprogressive disease and can be caused by viral infections, drugs, vitamin A deficiency, or genetic defects...
--- retinitis pigmentosa
Retinitis pigmentosa
Retinitis pigmentosa is a group of genetic eye conditions that leads to incurable blindness. In the progression of symptoms for RP, night blindness generally precedes tunnel vision by years or even decades. Many people with RP do not become legally blind until their 40s or 50s and retain some...
--- usher syndromes
--- genetic diseases, x-linked
--- androgen-insensitivity syndrome --- choroideremiaChoroideremia
Choroideremia is an X-linked recessive retinal degenerative disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye....
--- dyskeratosis congenita
Dyskeratosis congenita
Dyskeratosis congenita , also called Zinsser-Cole-Engman syndrome, is a rare progressive congenital disorder which results in what in some ways resembles premature aging...
--- fabry disease --- focal dermal hypoplasia
Focal dermal hypoplasia
Focal dermal hypoplasia is a form of ectodermal dysplasia.It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin.It has been associated with PORCN, on the X chromosome.-External links:...
--- glycogen storage disease type iib --- glycogen storage disease type viii --- granulomatous disease, chronic --- ichthyosis, x-linked --- hemophilia b --- mental retardation, x-linked --- adrenoleukodystrophy
Adrenoleukodystrophy
Adrenoleukodystrophy is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies, whose chief feature is damage to myelin...
--- coffin-lowry syndrome
Coffin-Lowry syndrome
Coffin-Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.-History:...
--- fragile x syndrome
Fragile X syndrome
Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...
--- lesch-nyhan syndrome
Lesch-Nyhan syndrome
Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
--- menkes kinky hair syndrome --- mucopolysaccharidosis ii --- pyruvate dehydrogenase complex deficiency disease --- rett syndrome
Rett syndrome
Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth . Repetitive hand movements, such as wringing and/or repeatedly putting hands into...
--- muscular dystrophy, duchenne --- muscular dystrophy, emery-dreifuss --- oculocerebrorenal syndrome
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets....
--- pelizaeus-merzbacher disease
Pelizaeus-Merzbacher disease
Pelizaeus–Merzbacher disease is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.-Classification:...
--- wiskott-aldrich syndrome
Wiskott-Aldrich syndrome
Wiskott–Aldrich syndrome is a rare X-linked recessive disease characterized by eczema, thrombocytopenia , immune deficiency, and bloody diarrhea . It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954...
--- hemoglobinopathies
--- anemia, sickle cell --- hemoglobin sc disease --- sickle cell traitSickle cell trait
Sickle cell trait describes a condition in which a person has one abnormal allele of the hemoglobin beta gene , but does not display the severe symptoms of sickle cell disease that occur in a person who has two copies of that allele...
--- hemoglobin c disease --- thalassemia
Thalassemia
Thalassemia is an inherited autosomal recessive blood disease that originated in the Mediterranean region. In thalassemia the genetic defect, which could be either mutation or deletion, results in reduced rate of synthesis or no synthesis of one of the globin chains that make up hemoglobin...
--- alpha-thalassemia
Alpha-thalassemia
Alpha-thalassemia is a form of thalassemia involving the genes HBA1 and HBA2. Alpha-thalassemia is due to impaired production of 1,2,3, or 4 alpha globin chains, leading to a relative excess of beta globin chains...
--- hydrops fetalis
Hydrops fetalis
Hydrops fetalis is a condition in the fetus characterized by an accumulation of fluid, or edema, in at least two fetal compartments. By comparison, hydrops allantois or hydrops amnion are an accumulation of excessive fluid in the allantoic or amniotic space respectively.-Presentation:Locations can...
--- beta-thalassemia
Beta-thalassemia
Beta-thalassemias are a group of inherited blood disorders caused by reduced or absent synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated...
--- heredodegenerative disorders, nervous system
--- alexander diseaseAlexander disease
Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics....
--- amyloid neuropathies, familial --- canavan disease
Canavan disease
Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
--- cockayne syndrome
Cockayne syndrome
Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
--- dystonia musculorum deformans --- gerstmann-straussler-scheinker disease --- hallervorden-spatz syndrome --- hepatolenticular degeneration --- hereditary central nervous system demyelinating diseases --- hereditary motor and sensory neuropathies --- charcot-marie-tooth disease
Charcot-Marie-Tooth disease
Charcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
--- refsum disease --- spastic paraplegia, hereditary --- hereditary sensory and autonomic neuropathies --- dysautonomia, familial --- huntington disease --- lafora disease
Lafora disease
Lafora disease, also called Lafora progressive myoclonic epilepsy or MELF , is a fatal autosomal recessive genetic disorder characterized by the presence of inclusion bodies, known as Lafora bodies, within neurons and the cells of the heart, liver, muscle, and skin.Most patients with this disease...
--- lesch-nyhan syndrome
Lesch-Nyhan syndrome
Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
--- menkes kinky hair syndrome --- mental retardation, x-linked --- adrenoleukodystrophy
Adrenoleukodystrophy
Adrenoleukodystrophy is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies, whose chief feature is damage to myelin...
--- coffin-lowry syndrome
Coffin-Lowry syndrome
Coffin-Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.-History:...
--- fragile x syndrome
Fragile X syndrome
Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...
--- lesch-nyhan syndrome
Lesch-Nyhan syndrome
Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
--- menkes kinky hair syndrome --- mucopolysaccharidosis ii --- pyruvate dehydrogenase complex deficiency disease --- rett syndrome
Rett syndrome
Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth . Repetitive hand movements, such as wringing and/or repeatedly putting hands into...
--- myotonia congenita
Myotonia congenita
Congenital myotonia is a genetic, neuromuscular channelopathy that affects skeletal muscles . It is congenital, meaning that it is present from birth. Amongst other problems, it causes delayed relaxation of the muscles and rigidity...
--- myotonic dystrophy
Myotonic dystrophy
Myotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles , cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age...
--- neurofibromatosis
Neurofibromatosis
Neurofibromatosis is a genetically-inherited disorder in which the nerve tissue grows tumors that may be benign or may cause serious damage by compressing nerves and other tissues...
--- neurofibromatosis 1 --- neurofibromatosis 2 --- neuronal ceroid-lipofuscinosis --- optic atrophies, hereditary --- optic atrophy, hereditary, leber --- optic atrophy, autosomal dominant --- wolfram syndrome
Wolfram syndrome
Wolfram syndrome, also called DIDMOAD , is a rare genetic disorder, causing diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders.It was first described in four siblings in 1938 by Dr. Don J...
--- rett syndrome
Rett syndrome
Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth . Repetitive hand movements, such as wringing and/or repeatedly putting hands into...
--- spinal muscular atrophies of childhood
Spinal muscular atrophies of childhood
Survival motor neuron spinal muscular atrophy is a term used used to describe certain forms of spinal muscular atrophy that are associated with the Survival of Motor Neuron protein...
--- spinocerebellar degenerations --- friedreich ataxia --- myoclonic cerebellar dyssynergia --- olivopontocerebellar atrophies --- spinocerebellar ataxias --- machado-joseph disease
Machado-Joseph disease
Machado–Joseph disease or Spinocerebellar ataxia type 3 is a rare autosomal, dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which results in a lack of muscle control and coordination of the upper and lower extremities...
--- tourette syndrome
Tourette syndrome
Tourette syndrome is an inherited neuropsychiatric disorder with onset in childhood, characterized by multiple physical tics and at least one vocal tic; these tics characteristically wax and wane...
--- tuberous sclerosis
Tuberous sclerosis
Tuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral...
--- unverricht-lundborg syndrome
--- hyperthyroxinemia, familial dysalbuminemic
--- jervell-lange nielsen syndrome
--- metabolism, inborn errors
--- amino acid metabolism, inborn errors --- albinismAlbinism
Albinism is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin...
--- albinism, ocular --- albinism, oculocutaneous --- hermanski-pudlak syndrome --- piebaldism
Piebaldism
Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead....
--- alkaptonuria
Alkaptonuria
Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
--- aminoaciduria, renal --- cystinuria
Cystinuria
Cystinuria is an inherited autosomal recessive disease that is characterized by the formation of cystine stones in the kidneys, ureter, and bladder.-Signs and symptoms:Cystinuria is a cause of persistent kidney stones...
--- hartnup disease
Hartnup disease
Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids...
--- carbamoyl-phosphate synthase i deficiency disease --- citrullinemia
Citrullinemia
Citrullinemia, also called citrullinuria, is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood....
--- homocystinuria
Homocystinuria
Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase...
--- hyperargininemia --- hyperglycinemia, nonketotic --- hyperhomocysteinemia
Hyperhomocysteinemia
Hyperhomocysteinemia or hyperhomocysteinaemia is a medical condition characterized by an abnormally large level of homocysteine in the blood....
--- hyperlysinemias --- maple syrup urine disease
Maple syrup urine disease
Maple syrup urine disease , also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia...
--- multiple carboxylase deficiency
Multiple carboxylase deficiency
Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.The deficiency can be in biotinidase or holocarboxylase synthetase.These conditions respond to biotin.Forms include:...
--- biotinidase deficiency
Biotinidase deficiency
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency....
--- holocarboxylase synthetase deficiency
Holocarboxylase synthetase deficiency
Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on...
--- ornithine carbamoyltransferase deficiency disease --- phenylketonurias --- phenylketonuria, maternal --- tyrosinemias --- amino acid transport disorders, inborn --- hartnup disease
Hartnup disease
Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids...
--- oculocerebrorenal syndrome
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets....
--- amyloidosis, familial --- amyloid neuropathies, familial --- cerebral amyloid angiopathy, familial --- brain diseases, metabolic, inborn --- abetalipoproteinemia
Abetalipoproteinemia
Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a deficiency of apolipoprotein B-48 and B-100, which are used in the synthesis and exportation of...
--- carbamoyl-phosphate synthase i deficiency disease --- cerebral amyloid angiopathy, familial --- citrullinemia
Citrullinemia
Citrullinemia, also called citrullinuria, is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood....
--- galactosemias --- hartnup disease
Hartnup disease
Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids...
--- hepatolenticular degeneration --- homocystinuria
Homocystinuria
Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase...
--- hyperargininemia --- hyperglycinemia, nonketotic --- hyperlysinemias --- leigh disease --- lesch-nyhan syndrome
Lesch-Nyhan syndrome
Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
--- lysosomal storage diseases, nervous system --- fucosidosis
Fucosidosis
Fucosidosis, also called alpha-l-fucosidase deficiency, is a rare autosomal recessive lysosomal storage disease in which the enzyme fucosidase is not properly used in the cells to break down fucose. This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome...
--- glycogen storage disease type ii
Glycogen storage disease type II
Glycogen storage disease type II is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme...
--- mucolipidoses --- sialic acid storage disease --- sphingolipidoses
Sphingolipidoses
-Accumulated products:* Gangliosides: Gangliosidosis** GM1 gangliosidoses** GM2 gangliosidoses*** Tay-Sachs disease*** Sandhoff disease* Glycolipids** Fabry's disease** Krabbe disease** Metachromatic leukodystrophy*Glucocerebrosides**Gaucher's disease...
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
Sandhoff disease
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...
--- tay-sachs disease
Tay-Sachs disease
Tay–Sachs disease is an autosomal recessive genetic disorder...
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- maple syrup urine disease
Maple syrup urine disease
Maple syrup urine disease , also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia...
--- melas syndrome --- menkes kinky hair syndrome --- merrf syndrome
MERRF syndrome
MERRF syndrome is a mitochondrial disease. It is extremely rare, with an estimated prevalence of 1/400,000 in Europe, and has varying degrees of expressivity owing to heteroplasmy-Presentation:...
--- oculocerebrorenal syndrome
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets....
--- ornithine carbamoyltransferase deficiency disease --- peroxisomal disorders --- adrenoleukodystrophy
Adrenoleukodystrophy
Adrenoleukodystrophy is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies, whose chief feature is damage to myelin...
--- refsum disease --- zellweger syndrome
Zellweger syndrome
Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare, congenital disorder, characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called leukodystrophies...
--- phenylketonurias --- phenylketonuria, maternal --- pyruvate carboxylase deficiency disease --- pyruvate dehydrogenase complex deficiency disease --- tyrosinemias --- carbohydrate metabolism, inborn errors --- carbohydrate-deficient glycoprotein syndrome --- fructose metabolism, inborn errors --- fructose-1,6-diphosphatase deficiency --- fructose intolerance
Fructose intolerance
Hereditary fructose intolerance or fructose poisoning is a hereditary condition caused by a deficiency of liver enzymes that metabolise fructose...
--- fucosidosis
Fucosidosis
Fucosidosis, also called alpha-l-fucosidase deficiency, is a rare autosomal recessive lysosomal storage disease in which the enzyme fucosidase is not properly used in the cells to break down fucose. This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome...
--- galactosemias --- glycogen storage disease
Glycogen storage disease
Glycogen storage disease is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism involved in these processes...
--- glycogen storage disease type i
Glycogen storage disease type I
Glycogen storage disease type I or von Gierke's disease, is the most common of the glycogen storage diseases. This genetic disease results from deficiency of the enzyme glucose-6-phosphatase. This deficiency impairs the ability of the liver to produce free glucose from glycogen and from...
--- glycogen storage disease type ii
Glycogen storage disease type II
Glycogen storage disease type II is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme...
--- glycogen storage disease type iib --- glycogen storage disease type iii
Glycogen storage disease type III
Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of metabolism characterized by a deficiency in glycogen debranching enzymes....
--- glycogen storage disease type iv
Glycogen storage disease type IV
-Synonyms:It is also known as:-*Glycogenosis type IV,*Glycogen Branching Enzyme Deficiency ,*polyglucosan body disease.*Amylopectinosis-Human pathology:...
--- glycogen storage disease type v
Glycogen storage disease type V
Glycogen storage disease type V is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase. Its incidence is reported as 1 in 100,000, approximately the same as glycogen storage disease type I....
--- glycogen storage disease type vi
Glycogen storage disease type VI
Glycogen storage disease type VI is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system.It is also known as "Hers' disease", after Henri G...
--- glycogen storage disease type vii --- glycogen storage disease type viii --- hyperoxaluria, primary --- lactose intolerance
Lactose intolerance
Lactose intolerance, also called lactase deficiency or hypolactasia, is the inability to digest and metabolize lactose, a sugar found in milk...
--- mannosidase deficiency diseases --- alpha-mannosidosis
Alpha-mannosidosis
Alpha-mannosidosis is a lysosomal storage disorder caused by deficient activity of the enzyme alpha-D-mannosidase . In humans it is known to be caused by an autosomal recessive genetic mutation...
--- beta-mannosidosis
Beta-mannosidosis
Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a rare autosomal recessiveform of mannosidosis associated with MANBA....
--- mucolipidoses --- mucopolysaccharidoses --- mucopolysaccharidosis i --- mucopolysaccharidosis ii --- mucopolysaccharidosis iii --- mucopolysaccharidosis iv --- mucopolysaccharidosis vi
Mucopolysaccharidosis VI
Maroteaux–Lamy syndrome is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B...
--- mucopolysaccharidosis vii --- multiple carboxylase deficiency
Multiple carboxylase deficiency
Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.The deficiency can be in biotinidase or holocarboxylase synthetase.These conditions respond to biotin.Forms include:...
--- biotinidase deficiency
Biotinidase deficiency
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency....
--- holocarboxylase synthetase deficiency
Holocarboxylase synthetase deficiency
Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on...
--- nesidioblastosis
Nesidioblastosis
Nesidioblastosis is beta cell hyperplasia, consisting of the proliferation of islet cells from pancreatic ducts. It is a cause of hypoglycemia and hyperinsulinemia in a number of infants and newborns. Recently, this condition has been recognized in adolescents and adults and occurs in 5% of...
--- persistent hyperinsulinemia hypoglycemia of infancy --- pyruvate metabolism, inborn errors --- leigh disease --- pyruvate carboxylase deficiency disease --- pyruvate dehydrogenase complex deficiency disease --- cytochrome-c oxidase deficiency --- glucosephosphate dehydrogenase deficiency --- hyperbilirubinemia, hereditary --- crigler-najjar syndrome
Crigler-Najjar syndrome
Crigler-Najjar Syndrome or CNS is a rare disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of blood. The disorder results in an inherited form of non-hemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in...
--- gilbert disease --- jaundice, chronic idiopathic --- lipid metabolism, inborn errors --- hypercholesterolemia, familial --- hyperlipidemia, familial combined --- hypercholesterolemia, familial --- hyperlipoproteinemia type iv --- hyperlipoproteinemia type iii --- hyperlipoproteinemia type iv --- hyperlipoproteinemia type v --- hypolipoproteinemia
Hypolipoproteinemia
Hypolipoproteinemia is defined as a lack of lipoprotein in the blood due to genetic or other diseases such as malnutrition and malabsorption.-Diagnosis:It can be diagnosed via blood study that identifies fat particles...
--- abetalipoproteinemia
Abetalipoproteinemia
Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a deficiency of apolipoprotein B-48 and B-100, which are used in the synthesis and exportation of...
--- hypobetalipoproteinemia
Hypobetalipoproteinemia
Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, below the 5th percentile. The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol....
--- lecithin acyltransferase deficiency --- tangier disease
Tangier disease
Tangier disease is a rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein , often referred to as "good cholesterol," in the bloodstream.-Diagnosis:...
--- lipoidosis --- cholesterol ester storage disease --- lipoidproteinosis --- neuronal ceroid-lipofuscinosis --- refsum disease --- sjogren-larsson syndrome
Sjögren-Larsson syndrome
Sjögren–Larsson syndrome is an autosomal recessive form of ichthyosis apparent at birth.-Causes:It is associated with a deficiency of the enzyme "fatty aldehyde dehydrogenase"...
--- sphingolipidoses
Sphingolipidoses
-Accumulated products:* Gangliosides: Gangliosidosis** GM1 gangliosidoses** GM2 gangliosidoses*** Tay-Sachs disease*** Sandhoff disease* Glycolipids** Fabry's disease** Krabbe disease** Metachromatic leukodystrophy*Glucocerebrosides**Gaucher's disease...
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
Sandhoff disease
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...
--- tay-sachs disease
Tay-Sachs disease
Tay–Sachs disease is an autosomal recessive genetic disorder...
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- sea-blue histiocyte syndrome --- wolman disease
Wolman disease
Wolman Disease Wolman Disease Wolman Disease (also known as Wolman’s Disease, early onset LAL Deficiency, and Lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA). This enzyme is necessary to break down certain...
--- lipoprotein lipase deficiency, familial --- peroxisomal disorders --- acatalasia
Acatalasia
Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase.-Presentation:...
--- adrenoleukodystrophy
Adrenoleukodystrophy
Adrenoleukodystrophy is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies, whose chief feature is damage to myelin...
--- chondrodysplasia punctata, rhizomelic --- refsum disease --- zellweger syndrome
Zellweger syndrome
Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare, congenital disorder, characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called leukodystrophies...
--- smith-lemli-opitz syndrome
Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome is an autosomal recessive metabolic and developmental congenital disorder that causes the inability to correctly produce or synthesize cholesterol due to a low occurrence of the 7-DHC reductace enzyme.-Symptoms:The signs and symptoms of SLOS syndrome vary widely...
--- xanthomatosis, cerebrotendinous --- lysosomal storage diseases --- cholesterol ester storage disease --- lysosomal storage diseases, nervous system --- fucosidosis
Fucosidosis
Fucosidosis, also called alpha-l-fucosidase deficiency, is a rare autosomal recessive lysosomal storage disease in which the enzyme fucosidase is not properly used in the cells to break down fucose. This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome...
--- glycogen storage disease type ii
Glycogen storage disease type II
Glycogen storage disease type II is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme...
--- mucolipidoses --- sialic acid storage disease --- sphingolipidoses
Sphingolipidoses
-Accumulated products:* Gangliosides: Gangliosidosis** GM1 gangliosidoses** GM2 gangliosidoses*** Tay-Sachs disease*** Sandhoff disease* Glycolipids** Fabry's disease** Krabbe disease** Metachromatic leukodystrophy*Glucocerebrosides**Gaucher's disease...
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
Sandhoff disease
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...
--- tay-sachs disease
Tay-Sachs disease
Tay–Sachs disease is an autosomal recessive genetic disorder...
--- tay-sachs disease, ab variant --- gangliosidosis gm1 --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- mannosidase deficiency diseases --- alpha-mannosidosis
Alpha-mannosidosis
Alpha-mannosidosis is a lysosomal storage disorder caused by deficient activity of the enzyme alpha-D-mannosidase . In humans it is known to be caused by an autosomal recessive genetic mutation...
--- beta-mannosidosis
Beta-mannosidosis
Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a rare autosomal recessiveform of mannosidosis associated with MANBA....
--- mucopolysaccharidoses --- mucopolysaccharidosis i --- mucopolysaccharidosis ii --- mucopolysaccharidosis iii --- mucopolysaccharidosis iv --- mucopolysaccharidosis vi
Mucopolysaccharidosis VI
Maroteaux–Lamy syndrome is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B...
--- mucopolysaccharidosis vii --- sphingolipidoses
Sphingolipidoses
-Accumulated products:* Gangliosides: Gangliosidosis** GM1 gangliosidoses** GM2 gangliosidoses*** Tay-Sachs disease*** Sandhoff disease* Glycolipids** Fabry's disease** Krabbe disease** Metachromatic leukodystrophy*Glucocerebrosides**Gaucher's disease...
--- fabry disease --- gangliosidoses --- gangliosidoses gm2 --- sandhoff disease
Sandhoff disease
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...
--- tay-sachs disease
Tay-Sachs disease
Tay–Sachs disease is an autosomal recessive genetic disorder...
--- tay-sachs disease, ab variant --- gaucher disease --- leukodystrophy, globoid cell --- leukodystrophy, metachromatic --- niemann-pick diseases --- sea-blue histiocyte syndrome --- wolman disease
Wolman disease
Wolman Disease Wolman Disease Wolman Disease (also known as Wolman’s Disease, early onset LAL Deficiency, and Lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA). This enzyme is necessary to break down certain...
--- metal metabolism, inborn errors --- hemochromatosis --- hepatolenticular degeneration --- hypophosphatasia
Hypophosphatasia
Hypophosphatasia is a rare, and sometimes fatal metabolic bone disease. Clinical symptoms are heterogeneous ranging from the rapidly fatal perinatal variant, with profound skeletal hypomineralization and respiratory compromise to a milder, progressive osteomalacia later in life...
--- hypophosphatemia, familial --- menkes kinky hair syndrome --- paralyses, familial periodic --- hypokalemic periodic paralysis
Hypokalemic periodic paralysis
Hypokalemic periodic paralysis is a rare channelopathy characterized by muscle weakness or paralysis with a matching fall in potassium levels in the blood...
--- paralysis, hyperkalemic periodic --- andersen syndrome --- pseudohypoparathyroidism
Pseudohypoparathyroidism
Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level is actually appropriately high...
--- pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism is an inherited disorder, named for its similarity to pseudohypoparathyroidism in presentation...
--- porphyria, erythropoietic --- porphyrias, hepatic --- coproporphyria, hereditary --- porphyria, acute intermittent --- porphyria cutanea tarda
Porphyria cutanea tarda
Porphyria cutanea tarda is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs...
--- porphyria, hepatoerythropoietic --- porphyria, variegate --- protoporphyria, erythropoietic --- progeria
Progeria
Progeria is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The word progeria comes from the Greek words "pro" , meaning "before", and "géras" , meaning "old age"...
--- purine-pyrimidine metabolism, inborn errors --- gout
Gout
Gout is a medical condition usually characterized by recurrent attacks of acute inflammatory arthritis—a red, tender, hot, swollen joint. The metatarsal-phalangeal joint at the base of the big toe is the most commonly affected . However, it may also present as tophi, kidney stones, or urate...
--- arthritis, gouty --- lesch-nyhan syndrome
Lesch-Nyhan syndrome
Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
--- renal tubular transport, inborn errors --- acidosis, renal tubular --- aminoaciduria, renal --- cystinuria
Cystinuria
Cystinuria is an inherited autosomal recessive disease that is characterized by the formation of cystine stones in the kidneys, ureter, and bladder.-Signs and symptoms:Cystinuria is a cause of persistent kidney stones...
--- hartnup disease
Hartnup disease
Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids...
--- cystinosis
Cystinosis
Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group...
--- fanconi syndrome
Fanconi syndrome
Falconi syndrome is a disease of the proximal renal tubules of the kidney in which glucose, amino acids, uric acid, phosphate and bicarbonate are passed into the urine, instead of being reabsorbed. Fanconi syndrome affects the proximal tubule, which is the first part of the tubule to process fluid...
--- glycosuria, renal --- hypophosphatemia, familial --- oculocerebrorenal syndrome
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets....
--- pseudohypoaldosteronism
Pseudohypoaldosteronism
Pseudohypoaldosteronism is a condition that mimics hypoaldosteronism. However, the condition is due to a failure of response to aldosterone, and levels of aldosterone are actually elevated, due to a lack of feedback....
--- steroid metabolism, inborn errors --- adrenal hyperplasia, congenital --- mineralocorticoid excess syndrome, apparent --- ichthyosis, x-linked --- smith-lemli-opitz syndrome
Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome is an autosomal recessive metabolic and developmental congenital disorder that causes the inability to correctly produce or synthesize cholesterol due to a low occurrence of the 7-DHC reductace enzyme.-Symptoms:The signs and symptoms of SLOS syndrome vary widely...
--- muscular dystrophies
--- distal myopathies --- glycogen storage disease type vii --- muscular dystrophies, limb-girdle --- muscular dystrophy, duchenne --- muscular dystrophy, emery-dreifuss --- muscular dystrophy, facioscapulohumeral --- muscular dystrophy, oculopharyngeal --- myotonic dystrophyMyotonic dystrophy
Myotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles , cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age...
--- myasthenic syndromes, congenital
--- neoplastic syndromes, hereditary
--- adenomatous polyposis coli --- gardner syndrome --- basal cell nevus syndrome --- colorectal neoplasms, hereditary nonpolyposis --- dysplastic nevus syndromeDysplastic nevus syndrome
Dysplastic nevus syndrome is a cutaneous condition described in certain families, and characterized by unusual nevi and multiple inherited melanomas.-Historical background:In 1820 Norris reported the first case of what is now recognized as FAMMM...
--- exostoses, multiple hereditary --- hamartoma syndrome, multiple --- li-fraumeni syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. It is named after Frederick Pei Li and Joseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome. Li-Fraumeni syndrome greatly increases susceptibility to cancer...
--- multiple endocrine neoplasia
Multiple endocrine neoplasia
The term multiple endocrine neoplasia encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern. In some cases, the tumors are malignant, in others, benign...
--- multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 1 or Wermer's syndrome is part of a group of disorders that affect the endocrine system.-Explanation:...
--- multiple endocrine neoplasia type 2a --- multiple endocrine neoplasia type 2b
Multiple endocrine neoplasia type 2b
Multiple endocrine neoplasia type 3 is a genetic disease that causes multiple tumors on the mouth, eyes, and endocrine glands...
--- wilms tumor --- denys-drash syndrome
Denys-Drash syndrome
Denys-Drash syndrome is a syndrome characterized by the following conditions:* gonadal dysgenesis* nephropathy* Wilms tumorDenys-Drash Syndrome is a very rare disorder.- Etiology :...
--- wagr syndrome
WAGR syndrome
WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour , Aniridia , Genitourinary anomalies, and mental Retardation...
--- Neurofibromatosis
Neurofibromatosis
Neurofibromatosis is a genetically-inherited disorder in which the nerve tissue grows tumors that may be benign or may cause serious damage by compressing nerves and other tissues...
--- neurofibromatosis 1 --- neurofibromatosis 2 --- peutz-jeghers syndrome
Peutz-Jeghers syndrome
Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa...
--- sturge-weber syndrome
Sturge-Weber syndrome
Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal...
--- pain insensitivity, congenital
--- skin diseases, genetic
--- albinismAlbinism
Albinism is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin...
--- albinism, ocular --- albinism, oculocutaneous --- hermanski-pudlak syndrome --- piebaldism
Piebaldism
Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead....
--- cutis laxa
Cutis laxa
Cutis laxa is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.-Causes:In most cases, cutis laxa is inherited...
--- dermatitis, atopic --- dyskeratosis congenita
Dyskeratosis congenita
Dyskeratosis congenita , also called Zinsser-Cole-Engman syndrome, is a rare progressive congenital disorder which results in what in some ways resembles premature aging...
--- ectodermal dysplasia
Ectodermal dysplasia
Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities of the ectodermal structures. More than 150 different syndromes have been identified. Despite some of the syndromes having different genetic causes the symptoms are sometimes very similar...
--- ellis-van creveld syndrome
Ellis-van Creveld syndrome
Ellis–van Creveld Syndrome is a rare genetic disorder of the skeletal dysplasia type.-Symptoms:...
--- focal dermal hypoplasia
Focal dermal hypoplasia
Focal dermal hypoplasia is a form of ectodermal dysplasia.It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin.It has been associated with PORCN, on the X chromosome.-External links:...
--- neurocutaneous syndromes --- ehlers-danlos syndrome
Ehlers-Danlos syndrome
Ehlers–Danlos syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen . The collagen in connective tissue helps tissues to resist deformation...
--- epidermolysis bullosa
Epidermolysis bullosa
Epidermolysis bullosa is an inherited connective tissue disease causing blisters in the skin and mucosal membranes, with an incidence of 1/50,000. Its severity ranges from mild to lethal. It is caused by a mutation in the keratin or collagen gene....
--- epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica or Dystrophic EB is an inherited disease affecting the skin and other organs. "Butterfly children" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly.-Causes:DEB is caused by genetic defects...
--- epidermolysis bullosa, junctional --- epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.-Subtypes:...
--- ichthyosiform erythroderma, congenital --- hyperkeratosis, epidermolytic --- ichthyosis, lamellar --- ichthyosis vulgaris
Ichthyosis vulgaris
Ichthyosis vulgaris is a skin disorder causing dry, scaly skin. It is the most common form of ichthyosis, affecting around 1 in 250 people. For this reason it is known as common ichthyosis...
--- ichthyosis, x-linked --- incontinentia pigmenti
Incontinentia pigmenti
Incontinentia Pigmenti is a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system...
--- keratoderma, palmoplantar --- keratoderma, palmoplantar, diffuse --- papillon-lefevre disease
Papillon-Lefevre disease
Papillon–Lefèvre syndrome , also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin C.-Characteristics:...
--- keratosis follicularis
Keratosis follicularis
Keratosis follicularis may refer to:* Darier's disease* Focal palmoplantar keratoderma with oral mucosal hyperkeratosisSee also:* Isolated dyskeratosis follicularis* Keratosis follicularis spinulosa decalvans...
--- pemphigus, benign familial --- porokeratosis
Porokeratosis
Porokeratosis is a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer....
--- porphyria, erythropoietic --- porphyrias, hepatic --- coproporphyria, hereditary --- porphyria, acute intermittent --- porphyria cutanea tarda
Porphyria cutanea tarda
Porphyria cutanea tarda is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs...
--- porphyria, hepatoerythropoietic --- porphyria, variegate --- protoporphyria, erythropoietic --- pseudoxanthoma elasticum
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum , also known as Grönblad–Strandberg syndrome, is a genetic disease that causes fragmentation and mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis...
--- rothmund-thomson syndrome
Rothmund-Thomson syndrome
Rothmund–Thomson syndrome , also known as poikiloderma atrophicans with cataract or poikiloderma congenitale, is a rare autosomal recessive skin condition originally described by August von Rothmund in 1868. Matthew Sydney Thomson published further descriptions in 1936.There have been several...
--- sjogren-larsson syndrome
Sjögren-Larsson syndrome
Sjögren–Larsson syndrome is an autosomal recessive form of ichthyosis apparent at birth.-Causes:It is associated with a deficiency of the enzyme "fatty aldehyde dehydrogenase"...
--- xeroderma pigmentosum
Xeroderma pigmentosum
Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small. Multiple basal cell carcinomas and other skin...
--- anemia, neonatal
--- fetofetal transfusion --- fetomaternal transfusion--- erythroblastosis, fetal
--- kernicterusKernicterus
Kernicterus is damage to the brain centers of infants caused by increased levels of unconjugated bilirubin. This may be due to several underlying pathologic processes. Newborn babies are often polycythemic. When they break down the erythrocytes, one of the byproducts is bilirubin, which circulates...
--- hemorrhagic disease of newborn
--- hyperbilirubinemia, neonatal
--- jaundice, neonatal --- jaundice, chronic idiopathic--- hyperostosis, cortical, congenital
--- ichthyosisIchthyosisIchthyosis is a heterogeneous family of at least 28, generalized, mostly genetic skin disorders. All types of ichthyosis have dry, thickened, scaly or flaky skin...
--- ichthyosiform erythroderma, congenital --- hyperkeratosis, epidermolytic --- ichthyosis, lamellar --- ichthyosis, x-linked --- sjogren-larsson syndromeSjögren-Larsson syndrome
Sjögren–Larsson syndrome is an autosomal recessive form of ichthyosis apparent at birth.-Causes:It is associated with a deficiency of the enzyme "fatty aldehyde dehydrogenase"...
--- infant, premature, diseases
--- bronchopulmonary dysplasiaBronchopulmonary dysplasia
Bronchopulmonary dysplasia is a chronic lung disorder that is most common among children who were born prematurely, with low birthweights and who received prolonged mechanical ventilation to treat respiratory distress syndrome...
--- leukomalacia, periventricular --- respiratory distress syndrome, newborn --- hyaline membrane disease --- retinopathy of prematurity
Retinopathy of prematurity
Retinopathy of prematurity , previously known as retrolental fibroplasia , is an eye disease that affects prematurely-born babies. It is thought to be caused by disorganized growth of retinal blood vessels which may result in scarring and retinal detachment. ROP can be mild and may resolve...