Hand-foot-genital syndrome

Last revised by Rohit Sharma on 31 Jan 2024

Hand-foot-genital syndrome (previously known as hand-foot-uterus syndrome) refers to a rare hereditary disorder with abnormalities involving the hands, feet and uterus.

Hand-foot-genital syndrome should not be confused with:

Affected patients can have 1:

  • urogenital abnormalities

  • musculoskeletal abnormalities

    • short, pointed distal phalanges of the thumb and great toe

    • shortened metacarpals and metatarsals

    • unusual carpal and tarsal fusions are present

    • ulnar deviation of the second finger

    • clinodactyly of the fifth fingers

Hand-foot-genital syndrome is caused by mutation in HOXA13, which is inherited in an autosomal dominant pattern 1.

The syndrome was initially called hand-foot-uterus syndrome by Stern et al., but the observation of hypospadias in some affected males prompted a change of nomenclature ref.

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