Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features.

Mutations in the COL11A2 gene lead to a loss of function of this type of collagen, resulting in the signs and symptoms of OSMED.

The parents of a child with an autosomal recessive disorder are usually not affected but are carriers of one copy of the altered gene.

Other skeletal signs include enlarged joints, short hands and fingers, and flat bones of the spine (vertebrae).

Typical facial features include protruding eyes; a sunken nasal bridge; an upturned nose with a large, rounded tip; and a small lower jaw.