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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: DisorderA summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)
Detailed information
General public
- Article for general public
- Suomi (2014, pdf) - FPD RD Unit
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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