hand-foot-genital syndrome

Term ID

DOID:0060739

Synonyms

• hand-foot-uterus syndrome
• HFGS

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. (2)

References

• GARD:2594
• ICD10CM:Q51.2
• OMIM:140000
• ORDO:2438

Ontology

Human Disease   ( DOID:0060739 )