Metadata | |
---|---|
ID | DOID:0060226 |
Name | acrofrontofacionasal dysostosis |
Definition | A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. http://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis, https://www.ncbi.nlm.nih.gov/pubmed/2986457 |
Xrefs |
SNOMEDCT_US_2023_03_01:720408003 |
Subsets |
DO_rare_slim |
Synonyms |
AFFN dysostosis [EXACT] Richieri-Costa-Colletto syndrome [EXACT] |
Parent Relationships |
is_a dysostosis |