Otofaciocervical syndrome

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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 May 2024

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Otofaciocervical syndrome?

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