Otofaciocervical syndrome

MONDO:0008163

A rare, genetic developmental defect during embryogenesis 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.

Also known as: Fara Chlupackova syndrome, Fara-Chlupackova syndrome, OFC syndrome, familial oto-facio-cervical dysmorphia

0 clinical trials for this condition and its sub-types, 0 tagged with Otofaciocervical syndrome itself.

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↑ Hereditary disease (18235) ↑ Mandibulofacial dysostosis (0)

Sub-types of Otofaciocervical syndrome

Otofaciocervical syndrome 1 0 trials
Otofaciocervical syndrome 2 0 trials

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