mandibulofacial dysostosis
Findings
No curated finding names mandibulofacial dysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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)
Definition from the Mondo Disease Ontology (MONDO:0015483), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: mandibulofacial dysostosis
- Also called
- bilateral and symmetric oto-mandibular dysplasia