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Otospondylomegaepiphyseal dysplasia
rareAn 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.
- Identifiers
- MONDO:0008975 Orphanet:1427
- Part of
- Spondyloepiphyseal dysplasia
- Also known as
- Insley-Astley syndrome · Nance Sweeney chondrodysplasia · OSMED · OSMED syndrome · oto-spondylo-mega-epiphyseal dysplasia
Subtypes
Rare disease
Projects
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