loading...| Preferred Name |
mandibulofacial dysostosis |
| Synonyms |
bilateral and symmetric oto-mandibular dysplasia |
| Definitions |
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) |
| ID |
http://purl.obolibrary.org/obo/MONDO_0015483 |
| closeMatch | |
| database_cross_reference |
Orphanet:155899 MESH:D008342 MedDRA:10051456 |
| 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) |
| exactMatch | |
| has_exact_synonym |
bilateral and symmetric oto-mandibular dysplasia |
| id |
MONDO:0015483 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
| label |
mandibulofacial dysostosis |
| notation |
MONDO:0015483 |
| prefLabel |
mandibulofacial dysostosis |
| subClassOf |