hereditary disease otofaciocervical syndrome https://github.com/monarch-initiative/mondo/issues/7177 https://rarediseases.info.nih.gov/diseases/2273/fara-chlupackova-syndrome https://www.malacards.org/card/otofaciocervical_syndrome GARD:0004169 Fara-Chlupackova 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. MEDGEN:322257 MESH:C537074 Fara Chlupackova syndrome Orphanet:2792 OFC syndrome MESH:C563481 OMIMPS:166780 UMLS:C1833691 familial oto-facio-cervical dysmorphia mandibulofacial dysostosis