Otospondylomegaepiphyseal dysplasia

MONDO:0008975

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, Insley-Astley syndrome, Nance Sweeney chondrodysplasia, OSMED syndrome, oto-spondylo-mega-epiphyseal dysplasia

0 clinical trials for this condition and its sub-types, 0 tagged with Otospondylomegaepiphyseal dysplasia itself.

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↑ Spondyloepiphyseal dysplasia (8)

Sub-types of Otospondylomegaepiphyseal dysplasia

Otospondylomegaepiphyseal dysplasia, autosomal dominant 0 trials
Otospondylomegaepiphyseal dysplasia, autosomal recessive 0 trials

Including sub-types (0) Tagged with Otospondylomegaepiphyseal dysplasia (0)

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