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Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms may include lumbar lordosis, leg pain, joint pain, hip deformities, and an outward flaring of the bones of the lower rib cage. As a result of the hip and leg findings, individuals with this condition may have an unusual walk that resembles a waddle. The condition is often mistaken for vitamin D-deficient rickets. MCDS is caused by a mutation in one of the collagen genes known as COL10A1. The mutation may be inherited from a parent or may happen for the first time in an affected individual. The MCDS mutation is passed on in an autosomal dominant manner. Treatment may include physical therapy and/or orthopedic surgery and often requires a team of specialists. Early intervention is important to help children with MCDS reach their potential.
Source: GARD Last updated on 05-01-20
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