Autosomal dominant otospondylomegaepiphyseal dysplasia
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 September 2023.
Newly diagnosed with
Autosomal dominant otospondylomegaepiphyseal dysplasia?
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Advocacy Organizations
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.