Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome

Foot Ankle Surg. 2011 Jun;17(2):e28-30. doi: 10.1016/j.fas.2010.12.003. Epub 2011 Jan 19.

Abstract

When evaluating foot and hand malformations in children, the orthopaedic surgeon must always consider the possibility of a more serious underlying syndrome with other accompanying abnormalities of organogenesis. We report the case of a 13-year-old female with Hand-Foot-Genital syndrome presenting to our foot and ankle clinic with tarsal coalition and hallux valgus interphalangeus - an unusual variation on the previously reported hallux varus associated with the syndrome. She was subsequently found to have a novel mutation in the HOXA13 gene. To our knowledge, this is the first report of Hand-Foot-Genital syndrome in the orthopaedic literature.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Foot Deformities, Congenital / diagnostic imaging
  • Foot Deformities, Congenital / genetics*
  • Hallux Valgus / diagnostic imaging
  • Hallux Valgus / genetics*
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics*
  • Homeodomain Proteins / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation, Missense*
  • Radiography
  • Syndrome
  • Urogenital Abnormalities / genetics*

Substances

  • Homeodomain Proteins
  • homeobox protein HOXA13

Associated data

  • GENBANK/U82827