Treacher Collins syndrome

Summary
Synonym
  • Franceschetti syndrome
  • mandibulofacial dysostosis
Definition
A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
Super Class
autosomal dominant disease syndrome
External Links
Disease Ontology
DOID:2908
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
3340 NDST1 N-deacetylase and N-sulfotransferase 1
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024