# Nager acrofacial dysostosis

> 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

**Wikidata**: [Q12811075](https://www.wikidata.org/wiki/Q12811075)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Nager_acrofacial_dysostosis)  
**Source**: https://4ort.xyz/entity/nager-acrofacial-dysostosis


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000143368/MONDO_0007943)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000143368/Orphanet_245)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)