# acromelic frontonasal dysostosis

> dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations

**Wikidata**: [Q21124508](https://www.wikidata.org/wiki/Q21124508)  
**Source**: https://4ort.xyz/entity/acromelic-frontonasal-dysostosis


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000130449/MONDO_0011359)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)