| 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 | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a dysostosis |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |