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Autosomal dominant otospondylomegaepiphyseal dysplasia
Disease definition
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.
ORPHA:166100
Classification level: DisorderDetailed information
Article for general public
Professionals
- Clinical genetics review
- English (2021)
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