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Metaphyseal chondrodysplasia, Schmid type
Disease definition
Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.
ORPHA:174
Classification level: DisorderSummary
Epidemiology
Prevalence is unknown.
Etiology
The disorder is caused by mutations in the COL10A1 (6q21-q22) gene encoding the collagen alpha-1(X) chain.
Diagnostic methods
The condition is usually diagnosed during the second or third year of life. Diagnosis relies on detection of the metaphyseal lesions at radiography.
Differential diagnosis
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.
Antenatal diagnosis
Prenatal diagnosis should not be proposed for this disease.
Genetic counseling
Schmid metaphyseal chondrodysplasia is transmitted in an autosomal dominant manner. Genetic counseling may be recommended with a 50% risk of recurrence.
Management and treatment
Orthopedic correction is the only possible treatment.
A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008) Português (2008)
Detailed information
Disease review articles
- Clinical genetics review
- English (2019) - GeneReviews
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information