Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia (MED), also known as Fairbank disease, is a group of inherited skeletal disorders primarily affecting the growing ends (epiphyses) of bones. It is one of the most common skeletal dysplasias and is characterized by abnormal development and ossification of the epiphyses, leading to joint pain, stiffness, and early-onset osteoarthritis. The condition predominantly affects the hips, knees, hands, and feet, though the spine may also be involved in some forms. Symptoms typically become apparent in childhood, often presenting as difficulty with walking, a waddling gait, joint pain (especially in the hips and knees), and short stature that is usually mild. Radiographic findings include small, irregular, and fragmented epiphyses, delayed ossification of the epiphyses, and early degenerative joint changes. The severity of MED is variable, ranging from mild forms that may not be diagnosed until adulthood to more severe presentations recognized in early childhood. Some individuals may be misdiagnosed with bilateral Legg-Calvé-Perthes disease due to overlapping hip findings. MED can be caused by mutations in several genes, including COMP, COL9A1, COL9A2, COL9A3, and MATN3 (autosomal dominant forms), or SLC26A2 (autosomal recessive form, also known as rMED or EDM4). There is currently no cure for MED. Treatment is supportive and focuses on pain management, physical therapy to maintain joint mobility and muscle strength, weight management to reduce joint stress, and orthopedic interventions including joint replacement surgery when osteoarthritis becomes severe. Regular monitoring by orthopedic and genetic specialists is recommended.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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