otospondylomegaepiphyseal dysplasia, autosomal dominant

An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene.

Signs and symptoms

• Arthralgia
• Anteverted nares
• Malar flattening
• Depressed nasal bridge
• Sensorineural hearing impairment
• Cleft palate
• Premature osteoarthritis
• Midface retrusion
• Enlarged epiphyses
• Platyspondyly