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isolated congenital syngnathia

^ http://purl.obolibrary.org/obo/MONDO_0015409

Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis. [ Orphanet:141214 ]

Term info

database cross reference
  • SCTID:763317002 (MONDO:equivalentTo)
  • Orphanet:141214 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

definition

Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis.

exactMatch

http://identifiers.org/snomedct/763317002, http://purl.obolibrary.org/obo/Orphanet_141214

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015501

has exact synonym

isolated congenital maxillomandibular fusion

id

MONDO:0015409