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Hand-foot-genital syndrome(HFGS)

MedGen UID:
331103
Concept ID:
C1841679
Disease or Syndrome
Synonyms: Hand foot uterus syndrome; HFG syndrome; HFGS; HFU syndrome
SNOMED CT: Hand-foot-genital syndrome (702425002); Hand-foot-uterus syndrome (702425002)
Modes of inheritance:
 
HOXA13 (7p15.2)
 
Monarch Initiative: MONDO:0007698
OMIM®: 140000
Orphanet: ORPHA2438
Authors:

Additional descriptions

From OMIM
Hand-foot-genital syndrome (HFGS) is an autosomal dominant condition characterized by distal limb and distal genitourinary tract malformations. The most striking limb abnormality is first-digit hypoplasia, comprising short, proximally placed thumbs with hypoplastic thenar eminences and short, medially deviated halluces. There is also ulnar deviation of the second fingers, clinodactyly/brachydactyly of the fifth fingers, brachydactyly of the second to fifth toes, and delayed ossification, fusion, and shortening of the carpals and tarsals. These abnormalities appear to be fully penetrant, bilateral, and symmetrical, with little variation in severity. In contrast, genitourinary tract abnormalities are incompletely penetrant and variably severe, and include hypospadias in males, Mullerian duct fusion defects in females, vesicoureteric reflux, and pelviureteric junction obstruction (summary by Goodman et al., 2000).  http://www.omim.org/entry/140000
From MedlinePlus Genetics
Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system. People with this condition have abnormally short thumbs and first (big) toes, small fifth fingers that curve inward (clinodactyly), and short feet. The bones in the wrists and ankles may be fused in people with this condition, or hardening of these bones may be delayed. The other bones in the arms and legs are normal.

Abnormalities of the genitals and urinary tract can vary among affected individuals. Many people with hand-foot-genital syndrome have defects in the ureters, which are tubes that carry urine from each kidney to the bladder, or in the urethra, which carries urine from the bladder to the outside of the body. Recurrent urinary tract infections and an inability to control the flow of urine (urinary incontinence) have been reported. About half of males with this disorder have the urethra opening on the underside of the penis (hypospadias).

People with hand-foot-genital syndrome are usually able to have children (fertile). In some affected females, problems in the early development of the uterus can later increase the risk of pregnancy loss, premature labor, and stillbirth.  https://medlineplus.gov/genetics/condition/hand-foot-genital-syndrome

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHand-foot-genital syndrome

Professional guidelines

PubMed

Valentini AL, Giuliani M, Gui B, Laino ME, Zecchi V, Rodolfino E, Ninivaggi V, Manzoni C, Bonomo L
Am J Perinatol 2016 Apr;33(5):425-32. Epub 2015 Oct 21 doi: 10.1055/s-0035-1565996. PMID: 26489064

Recent clinical studies

Etiology

Owens KM, Quinonez SC, Thomas PE, Keegan CE, Lefebvre N, Roulston D, Larsen CA, Stadler HS, Innis JW
Am J Med Genet A 2013 May;161A(5):1019-27. Epub 2013 Mar 26 doi: 10.1002/ajmg.a.35843. PMID: 23532960
Utsch B, McCabe CD, Galbraith K, Gonzalez R, Born M, Dötsch J, Ludwig M, Reutter H, Innis JW
Am J Med Genet A 2007 Dec 15;143A(24):3161-8. doi: 10.1002/ajmg.a.31967. PMID: 17935235

Diagnosis

Geng W, Li F, Zhang R, Cao L, Du X, Gu W, Xu M
Eur J Med Genet 2023 Mar;66(3):104711. Epub 2023 Jan 24 doi: 10.1016/j.ejmg.2023.104711. PMID: 36702441
Piazza MJ, Urbanetz AA
JBRA Assist Reprod 2018 Jun 1;22(2):157-159. doi: 10.5935/1518-0557.20180025. PMID: 29638102Free PMC Article
Cao L, Chen C, Leng Y, Yan L, Wang S, Zhang X, Luo Y
J Genet 2017 Sep;96(4):647-652. doi: 10.1007/s12041-017-0810-y. PMID: 28947713
Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Ikegawa S, Matsumoto N, Miyake N
Am J Med Genet A 2014 Sep;164A(9):2398-402. Epub 2014 Jun 16 doi: 10.1002/ajmg.a.36648. PMID: 24934387
Simpson JL
Am J Med Genet 1999 Dec 29;89(4):224-39. doi: 10.1002/(sici)1096-8628(19991229)89:4<224::aid-ajmg7>3.0.co;2-c. PMID: 10727998

Prognosis

Cao L, Chen C, Leng Y, Yan L, Wang S, Zhang X, Luo Y
J Genet 2017 Sep;96(4):647-652. doi: 10.1007/s12041-017-0810-y. PMID: 28947713
Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C
Am J Med Genet A 2016 Mar;170(3):717-24. Epub 2015 Nov 21 doi: 10.1002/ajmg.a.37478. PMID: 26590955
Quinonez SC, Innis JW
Mol Genet Metab 2014 Jan;111(1):4-15. Epub 2013 Oct 29 doi: 10.1016/j.ymgme.2013.10.012. PMID: 24239177
Grier DG, Thompson A, Kwasniewska A, McGonigle GJ, Halliday HL, Lappin TR
J Pathol 2005 Jan;205(2):154-71. doi: 10.1002/path.1710. PMID: 15643670
Goodman FR
Am J Med Genet 2002 Oct 15;112(3):256-65. doi: 10.1002/ajmg.10776. PMID: 12357469

Clinical prediction guides

Cao L, Chen C, Leng Y, Yan L, Wang S, Zhang X, Luo Y
J Genet 2017 Sep;96(4):647-652. doi: 10.1007/s12041-017-0810-y. PMID: 28947713
Quinonez SC, Innis JW
Mol Genet Metab 2014 Jan;111(1):4-15. Epub 2013 Oct 29 doi: 10.1016/j.ymgme.2013.10.012. PMID: 24239177
Grier DG, Thompson A, Kwasniewska A, McGonigle GJ, Halliday HL, Lappin TR
J Pathol 2005 Jan;205(2):154-71. doi: 10.1002/path.1710. PMID: 15643670
Goodman FR
Am J Med Genet 2002 Oct 15;112(3):256-65. doi: 10.1002/ajmg.10776. PMID: 12357469
Simpson JL
Am J Med Genet 1999 Dec 29;89(4):224-39. doi: 10.1002/(sici)1096-8628(19991229)89:4<224::aid-ajmg7>3.0.co;2-c. PMID: 10727998

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