otofaciocervical syndrome
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.
MONDO:0003847
hereditary disease
is_a
MONDO:0015483
mandibulofacial dysostosis
is_a
Fara Chlupackova syndrome
exact
Fara-Chlupackova syndrome
exact
OFC syndrome
exact
familial oto-facio-cervical dysmorphia
related