Catalog

Otospondylomegaepiphyseal dysplasia

No MMS code

Link to WHO Definition

Otospondylomegaepiphyseal dysplasia – http://id.who.int/icd/entity/1885284987

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