General Information of Disease (ID: DISEGMSH)

Disease Name Mandibulofacial dysostosis
Synonyms bilateral and symmetric oto-mandibular dysplasia
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)
Disease Hierarchy
DISUFSPX: Otorhinolaryngologic disease
DISEGMSH: Mandibulofacial dysostosis