Metadata | |
---|---|
ID | DOID:2908 |
Name | Treacher Collins syndrome |
Definition | A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. https://www.ncbi.nlm.nih.gov/books/NBK1532/ |
Xrefs |
SNOMEDCT_US_2023_03_01:205416009 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
Franceschetti syndrome [EXACT] mandibulofacial dysostosis [EXACT] |
Parent Relationships |
is_a syndrome |