multiple epiphyseal dysplasia 6

A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13.

Signs and symptoms

• Intervertebral disk calcification
• Knee pain
• Osteoarthritis
• Multiple epiphyseal dysplasia
• Irregular vertebral endplates
• Arthralgia of the hip
• Irregular distal femoral epiphysis
• Flat capital femoral epiphysis
• Small epiphyses
• Arthralgia

Also known as: EDM6