Autoszomális domináns
Schmid metaphyseal chondrodysplasia is caused by a change in one copy of COL10A1, which makes type X collagen, found in the growth plates of long bones. Faulty collagen disrupts bone growth at the ends of long bones.
Tünetek és jelek
Short stature, bowed legs and a waddling gait usually appear in the second year of life. Hip changes (coxa vara) and leg pain are common, and X-rays show irregular, widened growth plates. Intelligence and facial features are normal, and hand and spine changes are usually mild.
Mit változtat a diagnózis
Orthopaedic follow-up is the mainstay, with surgery to correct severe leg bowing or hip deformity in some children; deformities can recur with growth. Genetic counselling is recommended; each child of an affected person has a 1 in 2 chance of inheriting the change, and new (de novo) cases also occur.
Vizsgált gének
Más néven
MCDS; metaphyseal chondrodysplasia Schmid type; spondylometaphyseal dysplasia, Japanese type
