Autosomal dominant otospondylomegaepiphyseal dysplasia

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Synonyms: AD OSMED | Stickler syndrome type 3 | Stickler syndrome, non-ocular type

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia depressed nasal bridge small nose with upturned tip cleft palate Pierre Robin sequence) bilateral pronounced sensorineural hearing loss and skeletal/joint anomalies (including spondyloepiphyseal dysplasia arthralgia/arthropathy) in the absence of ocular abnormalities.

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 May 2024

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Autosomal dominant otospondylomegaepiphyseal dysplasia?

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