Metaphyseal chondrodysplasia Schmid type

Metaphyseal chondrodysplasia, Schmid type, shortened to MCDS in the NORD report, is a very rare inherited disorder of bone growth. Wikipedia describes it as a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1, and NORD reports that it is caused by a mutation in the COL10A1 gene and passed on as an autosomal dominant trait. Growth at the ends of the long bones is disturbed, so the long bones are short and curved with widened growth plates and metaphyses. Affected people have short stature with short arms and legs and bowed legs, usually noticed when a child begins to walk, and a waddling gait is common; flaring of the lower ribs, a hip deformity called coxa vara and leg or joint pain may also occur. Unlike other rickets syndromes, serum calcium, phosphorus and urinary amino acid levels are normal. The condition is named for the German researcher F. Schmid, who characterized it in 1949. NORD says treatment is directed at the symptoms of each person, and that physical therapy or orthopedic surgery may help correct findings such as hip deformity. This entry records what the sources state and is not medical advice.