Otospondylomegaepiphyseal dysplasia

Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

Hearing impairment

A decreased magnitude of the sensory perception of sound.


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