acromelic frontonasal dysostosis

Summary
Definition
A 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.
Super Class
autosomal dominant disease dysostosis
Disease Ontology
DOID:0060342
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
57688 ZSWIM6 zinc finger SWIM-type containing 6

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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