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otofaciocervical syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008163

Otofaciocervical syndrome is 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. [ Orphanet:2792 ]

Term info

database cross reference
  • UMLS:C2931416 (Orphanet:2792/e)
  • Orphanet:2792 (OMIM:166780)
  • UMLS:C1833691 (Orphanet:2792)
  • MESH:C563481 (MONDO:equivalentTo)
  • OMIMPS:166780 (MONDO:equivalentTo)
  • GARD:0004169 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome, prototype_pattern

definition

Otofaciocervical syndrome is 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.

exactMatch

http://identifiers.org/mesh/C563481, https://omim.org/phenotypicSeries/PS166780, http://purl.obolibrary.org/obo/Orphanet_2792, http://linkedlifedata.com/resource/umls/id/C1833691

has exact synonym

OFC syndrome, Fara-Chlupackova syndrome

id

MONDO:0008163

relatedMatch

http://linkedlifedata.com/resource/umls/id/C2931416