Multiple epiphyseal dysplasia


Type of disease: Rare conditions

Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types, which are distinguished by their patterns of inheritance – autosomal dominant and autosomal recessive. Both types have relatively mild signs and symptoms, which may include joint pain that most commonly affects the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. Recessive MED is additionally characterized by malformations of the hands, feet, and knees; scoliosis; and other abnormalities. The majority of individuals are diagnosed during childhood, but some mild cases may not be diagnosed until adulthood. Dominant MED is caused by mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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