multiple epiphyseal dysplasia 3

A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13.

Signs and symptoms

• Knee pain
• Delayed epiphyseal ossification
• Elevated circulating creatine kinase activity
• Limited knee extension
• Abnormal hip joint morphology
• Short metacarpal
• Small epiphyses
• Mildly elevated creatine kinase
• Irregular epiphyses
• Osteoarthritis

Also known as: EDM3; multiple epiphyseal dysplasia 3 with or without myopathy