Malformative syndrome
Encyclopedia
A malformative syndrome is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).
Causes
- exogenous causes
- exogenous toxic (teratogenetic agents)
- ionizing radiationIonizing radiationIonizing radiation is radiation composed of particles that individually have sufficient energy to remove an electron from an atom or molecule. This ionization produces free radicals, which are atoms or molecules containing unpaired electrons...
s - fetal infections (maternofetal infections)
- genetic causes (or intrinsic causes) (genetic malformative diseases)
- chromosomal anomalies (chromosomal malformative diseases)
- numerical chromosomal anomalies (e.g. trisomy 13, trisomy 18, trisomy 21)
- structural chromosomal anomalies
- microdeletions (microdeletion syndromes)
- chromosomal rearrangements
- gene mutations (monogenic malformative diseases)
- Kabuki mask syndrome: MLL2
- Joubert syndromeJoubert syndromeJoubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.-Diagnosis:...
, Meckel syndromeMeckel syndromeMeckel syndrome is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.Meckel-Gruber syndrome is named for Johann...
and related syndromes: TMEM216 - cleft lip with and without cleft palate: MAFB and ABCA4
- Schinzel-Giedion syndromeSchinzel-Giedion syndromeSchinzel-Giedion syndrome is a congenital neurodegenerative terminal syndrome. First described in 1978 by Dr. Schinzel and Dr. Giedion as a syndrome with severe midface retraction, skull anomalies, renal anomalies and other anomalies...
: SETBP1 - Fanconi anemiaFanconi anemiaFanconi 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...
and related disorders: RAD51C - Noonan syndromeNoonan syndromeNoonan 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...
: NRAS - generalized lymph vessel dysplasia: CCBE1
- brachydactylyBrachydactylyBrachydactyly , is a medical term which literally means "shortness of the fingers and toes" . The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait...
-anonychiaAnonychiaAnonychia is the absence of nails, a rare anomaly, which may be the result of a congenital ectodermal defect, ichthyosis, severe infection, severe allergic contact dermatitis, self-inflicted trauma, Raynaud phenomenon, lichen planus, epidermolysis bullosa, or severe exfoliative diseases.-References:...
: SOX9 - genetic metabolic diseases
- Smith-Lemli-Opitz syndromeSmith-Lemli-Opitz syndromeSmith-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...
- Smith-Lemli-Opitz syndrome
See also
- malformative combination (malformation combination)
- malformative sequence (malformation sequence)
- malformative association (malformation association)
- Congenital abnormalityCongenital abnormalityA congenital anomaly is a condition which is present at the time of birth which varies from the standard presentation....
- Malformative syndrome
- ICD-10 Chapter Q: Congenital malformations, deformations and chromosomal abnormalities
- List of congenital disorders
- List of ICD-9 codes 740-759: Congenital anomalies
- March of DimesMarch of DimesThe March of Dimes Foundation is a United States nonprofit organization that works to improve the health of mothers and babies.-Organization:...