Otofaciocervical syndrome
Synonyms: Fara-Chlupackova syndrome | OFC syndrome
Otofaciocervical syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face broad forehead narrow nose and mandible high arched palate) prominent dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus antitragus and lobe) long neck preauricular and/or branchial fistulas and/or cysts hypoplastic cervical muscles with sloping shoulders and clavicles winged low and laterally-set scapulae hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.
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.
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Otofaciocervical syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.