Nager acrofacial dysostosis

Summary
Synonym
  • AFD
  • Nager syndrome
  • acrofacial dysostosis 1, Nager type
  • preaxial acrofacial dysostosis
  • preaxial manibulofacial dysostosis
Definition
An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.
Super Class
acrofacial dysostosis
Disease Ontology
DOID:5768
Mondo Disease Ontology
UMLS
NCI Thesaurus
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10262 SF3B4 splicing factor 3b subunit 4

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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: December 9, 2024