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

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