hand-foot-genital syndrome (DOID:0060739)
Alliance: disease page
Synonyms: hand-foot-uterus syndrome; HFGS
Alt IDs: OMIM:140000, ICD10CM:Q51.2, ORDO:2438
Definition: A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.