|
Disease name
|
Metaphyseal chondrodysplasia, Schmid type
Metaphyseal chondrodysplasia, Schmid type
|
|
|
Marker gene
|
|
Gene symbol
|
Chromosome location
|
Protein name
|
|
COL10A1
|
6q21-q22.3 |
Collagen alpha-1(X) chain |
|
|
|
Prevalence
|
|
미상 |
|
|
Inheritance
|
|
상염색체 우성 |
|
|
Age of onset
|
|
청소년기, 초기 성인기 |
|
|
ICD 10 code
|
|
Q78.5 |
|
|
MIM number
|
|
156500
|
|
|
Summary
|
|
Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. Prevalence is unknown. The condition is usually diagnosed during the second or third year of life. It is transmitted in an autosomal dominant manner and is caused by mutations in the COL10A1 (6q21-q22) gene encoding the collagen alpha-1(X) chain. Diagnosis relies on detection of the metaphyseal lesions at radiography. Hypochondroplasia (see this term) and sequelae from rickets are the principle differential diagnoses. Other metaphyseal dysplasias (such as cartilage-hair hypoplasia or Jansen type metaphyseal chondrodysplasia; see these terms) can be excluded as they are associated with very short stature and other features. Genetic counseling may be recommended with a 50% risk of recurrence. Prenatal diagnosis should not be proposed for this disease. Orthopedic correction is the only possible treatment. |
|