Hand-foot-genital syndrome

Last revised by Rohit Sharma on 31 Jan 2024

Citation, DOI, disclosures and article data

Citation:

Weerakkody Y, Sharma R, Campos A, Hand-foot-genital syndrome. Reference article, Radiopaedia.org (Accessed on 05 May 2024) https://doi.org/10.53347/rID-163475

DOI:

https://doi.org/10.53347/rID-163475

Permalink:

https://radiopaedia.org/articles/163475

rID:

163475

Article created:

26 Feb 2023, Yuranga Weerakkody ◉

Disclosures:

At the time the article was created Yuranga Weerakkody had no financial relationships to ineligible companies to disclose.

View Yuranga Weerakkody's current disclosures

Last revised:

31 Jan 2024, Rohit Sharma ◉

Disclosures:

At the time the article was last revised Rohit Sharma had no financial relationships to ineligible companies to disclose.

View Rohit Sharma's current disclosures

Revisions:

3 times, by 3 contributors - see full revision history and disclosures

Systems:

Paediatrics, Urogenital, Gynaecology, Musculoskeletal

Sections:

Syndromes

Tags:

re-write

Synonyms:

Hand foot uterus syndrome (HFUS)
Hand-foot-uterus syndrome
Hand-foot-genital syndrome (HFGS)

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:

urogenital abnormalities
- females
  - bicornuate uterus
  - vaginal septum
  - ectopic localization of ureteric and urethral orifices
- males
  - hypospadias
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

Pathology

Genetics

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

History and etymology

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.