Osteochondrodysplasia
Encyclopedia
Osteochondrodysplasia is a general term for a disorder of the development (dysplasia
) of bone
("osteo") and cartilage
("chondro").
that is a common cause of
dwarfism
. Achondroplastic dwarfs have short stature
, with an average adult height of 131 cm (4 feet, 3.8 inches) for males and 123 cm (4 feet, 0.6 inches) for females.
The prevalence is approximately 1 in 25,000.
s in one or more bones of the human body.
These lesions are tumor
-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone(s) can be involved.
caused by a deletion
of chromosomal
material. Diagnosis
is usually made at birth or in early childhood.
The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head and skeletal
abnormalities including bony growths projecting from the surfaces of bones.
s associated with multiple simple or cavernous soft tissue hemangioma
s. Also lymphangioma
s may be apparent.
Patients are normal at birth and the syndrome manifests during childhood and puberty. The enchondromas affect the extremities and their distribution is asymmetrical.
as an area of whiteness, and is where the bone density has significantly increased. Localized osteosclerosis can be caused by injuries that compress the bone, by osteoarthritis
, and osteoma
.
Dysplasia
Dysplasia , is a term used in pathology to refer to an abnormality of development. This generally consists of an expansion of immature cells, with a corresponding decrease in the number and location of mature cells. Dysplasia is often indicative of an early neoplastic process...
) of bone
Bone
Bones are rigid organs that constitute part of the endoskeleton of vertebrates. They support, and protect the various organs of the body, produce red and white blood cells and store minerals. Bone tissue is a type of dense connective tissue...
("osteo") and cartilage
Cartilage
Cartilage is a flexible connective tissue found in many areas in the bodies of humans and other animals, including the joints between bones, the rib cage, the ear, the nose, the elbow, the knee, the ankle, the bronchial tubes and the intervertebral discs...
("chondro").
Achondroplasia
Achondroplasia is a type of autosomal dominant genetic disorderGenetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
that is a common cause of
dwarfism
Dwarfism
Dwarfism 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....
. Achondroplastic dwarfs have short stature
Short stature
Short stature refers to a height of a human being which is below expected. Shortness is a vague term without a precise definition and with significant relativity to context...
, with an average adult height of 131 cm (4 feet, 3.8 inches) for males and 123 cm (4 feet, 0.6 inches) for females.
The prevalence is approximately 1 in 25,000.
Cleidocranial dysostosis
Cleidocranial dysostosis is a general skeletal condition so named from the collarbone (cleido-) and cranium deformities which people with it often have. Common features include:- Partly or completely missing collarbones.
- A soft spot or larger soft area in the top of the head where the fontanelleFontanelleA fontanelle is an anatomical feature on an infant's skull.-Anatomy:Fontanelles are soft spots on a baby's head which, during birth, enable the bony plates of the skull to flex, allowing the child's head to pass through the birth canal. The ossification of the bones of the skull causes the...
failed to close. - Bones and joints are underdeveloped.
- The permanent teethPermanent teethPermanent teeth are the second set of teeth formed in humans. There are thirty-two permanent teeth, consisting of six maxillary and six mandibular molars, four maxillary and four mandibular premolars, two maxillary and two mandibular canines, four maxillary and four mandibular incisors.The first...
include supernumerary teethHyperdontiaHyperdontia is the condition of having supernumerary teeth, or teeth which appear in addition to the regular number of teeth.-Types:Supernumerary teeth can be classified by shape and by position...
. - Permanent teethPermanent teethPermanent teeth are the second set of teeth formed in humans. There are thirty-two permanent teeth, consisting of six maxillary and six mandibular molars, four maxillary and four mandibular premolars, two maxillary and two mandibular canines, four maxillary and four mandibular incisors.The first...
not erupting - Bossing (bulging) of the foreheadForeheadFor the Arsenal striker see GervinhoIn human anatomy, the forehead is the fore part of the head. It is, formally, an area of the head bounded by three features, two of the skull and one of the scalp. The top of the forehead is marked by the hairline, the edge of the area where hair on the scalp...
. - HypertelorismHypertelorismHypertelorism 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...
Fibrous dysplasia
Fibrous dysplasia causes bone thinning and growths or lesionLesion
A lesion is any abnormality in the tissue of an organism , usually caused by disease or trauma. Lesion is derived from the Latin word laesio which means injury.- Types :...
s in one or more bones of the human body.
These lesions are tumor
Tumor
A tumor or tumour is commonly used as a synonym for a neoplasm that appears enlarged in size. Tumor is not synonymous with cancer...
-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone(s) can be involved.
Langer-Giedion syndrome
Langer-Giedion syndrome is a very rare genetic disorderGenetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
caused by a deletion
Genetic deletion
In genetics, a deletion is a mutation in which a part of a chromosome or a sequence of DNA is missing. Deletion is the loss of genetic material. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome...
of chromosomal
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
material. Diagnosis
Diagnosis
Diagnosis is the identification of the nature and cause of anything. Diagnosis is used in many different disciplines with variations in the use of logics, analytics, and experience to determine the cause and effect relationships...
is usually made at birth or in early childhood.
The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head and skeletal
Human skeleton
The human skeleton consists of both fused and individual bones supported and supplemented by ligaments, tendons, muscles and cartilage. It serves as a scaffold which supports organs, anchors muscles, and protects organs such as the brain, lungs and heart....
abnormalities including bony growths projecting from the surfaces of bones.
Mafucci syndrome
Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromaEnchondroma
An Enchondroma is a cartilage cyst found in the bone marrow. Typically, enchondroma is discovered on a X-ray scan. Enchondromas have a characteristic appearance on Magnetic Resonance Imaging as well. They have also been reported to cause increased uptake on PET...
s associated with multiple simple or cavernous soft tissue hemangioma
Hemangioma
A hemangioma of infancy is a benign self-involuting tumor of endothelial cells, the cells that line blood vessels. It usually appears during the first weeks of life and sometimes resolves by age 10. In more severe case hemangioma may have permanency, if not treated by a physician...
s. Also lymphangioma
Lymphangioma
Lymphangiomas are malformations of the lymphatic system, which is the network of vessels responsible for returning to the venous system excess fluid from tissues. These malformations can occur at any age and may involve any part of the body, but 90% occur in children less than 2 years of age and...
s may be apparent.
Patients are normal at birth and the syndrome manifests during childhood and puberty. The enchondromas affect the extremities and their distribution is asymmetrical.
Osteosclerosis
Osteosclerosis, an elevation in bone density, is normally detected on an X-rayX-ray
X-radiation is a form of electromagnetic radiation. X-rays have a wavelength in the range of 0.01 to 10 nanometers, corresponding to frequencies in the range 30 petahertz to 30 exahertz and energies in the range 120 eV to 120 keV. They are shorter in wavelength than UV rays and longer than gamma...
as an area of whiteness, and is where the bone density has significantly increased. Localized osteosclerosis can be caused by injuries that compress the bone, by osteoarthritis
Osteoarthritis
Osteoarthritis also known as degenerative arthritis or degenerative joint disease, is a group of mechanical abnormalities involving degradation of joints, including articular cartilage and subchondral bone. Symptoms may include joint pain, tenderness, stiffness, locking, and sometimes an effusion...
, and osteoma
Osteoma
An osteoma is a new piece of bone usually growing on another piece of bone, typically the skull. It is a benign tumor.When the bone tumor grows on other bone it is known as "homoplastic osteoma"; when it grows on other tissue it is called "heteroplastic osteoma".Osteoma represents the most common...
.
Other
- Deformity type Erlenmeyer flask gives a distal femurFemurThe femur , or thigh bone, is the most proximal bone of the leg in tetrapod vertebrates capable of walking or jumping, such as most land mammals, birds, many reptiles such as lizards, and amphibians such as frogs. In vertebrates with four legs such as dogs and horses, the femur is found only in...
similar to an Erlenmeyer flaskErlenmeyer flaskAn Erlenmeyer flask, also known as a conical flask, is a widely used type of laboratory flask which features a flat bottom, a conical body, and a cylindrical neck. It is named after the German chemist Emil Erlenmeyer, who created it in 1861...
. It may result from Gaucher disease. - Kashin-Beck diseaseKashin-Beck DiseaseKashin-Beck disease is a chronic, endemic osteochondropathy , which is mainly distributed from northeastern to southwestern China involving 15 provinces . Tibet currently has the highest incidence rate of KBD in China . Southeast Siberia and North Korea are also other affected areas...