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Metadata
DOID 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, http://www.ncbi.nlm.nih.gov/pubmed/2986457
Xrefs

MESH:C538186

OMIM:201180

OMIM:239710

ORDO:1784

UMLS_CUI:C1860118

Subsets

DO_rare_slim

Synonyms

AFFN dysostosis [EXACT]

Richieri-Costa-Colletto syndrome [EXACT]

Relationships

is_a dysostosis

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