Features include always present findings: Midline defect of the nose, Hypertelorism, Vertical clivus, and Midline facial cleft and others; and very common findings: Preaxial foot polydactyly, Bifid nose, Global developmental delay, and Talipes equinovarus. 55 total HPO annotations.

ZSWIM6 function has not been fully characterized.

Acromelic frontonasal dysostosis is caused by mutations in the ZSWIM6 gene on chromosome 5.

Genetic testing for ZSWIM6 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 11 always present features, 4 very common features, 17 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for acromelic frontonasal dysostosis.

1 publication has been identified in PubMed for acromelic frontonasal dysostosis. Research spans Case Report / Case Series (100%).

Recent Publications

• Guo C (2024). [PMID: 38858685](https://pubmed.ncbi.nlm.nih.gov/38858685/). *BMC pregnancy and childbirth*. [Case Report / Case Series]