Otospondylomegaepiphyseal dysplasia

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Synonyms: OSMED

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Otospondylomegaepiphyseal dysplasia?

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