Visualize Submit Comment
Metadata
ID DOID:0060342
Name acromelic frontonasal dysostosis
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.
https://www.ncbi.nlm.nih.gov/pubmed/15264282
Xrefs

GARD:5539

MESH:C566345

OMIM:603671

ORDO:1827

Subsets

DO_rare_slim

Parent Relationships

is_a dysostosis

is_a autosomal dominant disease

Add an item to the term tracker