Terminology Service for NFDI4Health

mandibulofacial dysostosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0015483


A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) [ http://id.nlm.nih.gov/mesh/D008342 ]

Term info

Label

mandibulofacial dysostosis

Synonyms
  • bilateral and symmetric oto-mandibular dysplasia
database cross reference
Subsets

disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10051456

exactMatch

http://identifiers.org/mesh/D008342, http://purl.obolibrary.org/obo/Orphanet_155899

id

MONDO:0015483

Term relations