hand-foot-genital syndrome

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 c

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.

Signs and symptoms

• Short foot
• Tethered cord
• Abnormal scaphoid morphology
• Hypoplastic fifth toenail
• Widened subarachnoid space
• Tarsometatarsal synostosis
• Broad hallux
• Proximal placement of thumb
• Carpal synostosis
• Constipation

Also known as: HFGS; hand-foot-uterus syndrome