Multiple epiphyseal dysplasia with contribution of two cases with a mutation in the COMP gene

Abstract

Multiple epiphyseal dysplasia (MED) is a heterogeneous group of inherited skeletal disorders characterized by abnormal development of the epiphyses. Patients with MED typically present with joint pain, stiffness, and a waddling gait, which often become symptomatic in child-hood or early adolescence. Radiographic features include irregular, flattened epiphyses and delayed ossification. The condition can lead to early onset of osteoarthritis. Mutations in six different genes can cause the disease; these may be inherited in an autosomal dominant or autosomal recessive manner, or occur as a “de novo” mutation. Molecular diagnostics are important for accurate prognosis and genetic counseling.