Term Name:	acromelic frontonasal dysostosis
Synonyms:
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 and that has_material_basis_in heterozygous mutation in the ZSWIM6 gene on chromosome 5q12.
Ontology:	Human Disease [DOID:0060342]   ( DOID:0060342 )