Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia
Definition
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.
Also known as OSMED, otospondylmegaepiphyseal dysplasia, otospondylomegaepiphyseal dysplasia — per MONDO