Otospondylomegaepiphyseal dysplasia

Orpha code: 1427OMIM code: 215150

Definition

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.

Disease data
Classification

Disease

Synonyms
OSMED
OSMED
ORPHA code
1427
OMIM code
215150
ICD10 code
Q77.7
ICD11 code
LD24.3

No additional description.

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