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Hand foot uterus syndrome(HFGS)

MedGen UID:
331103
Concept ID:
C1841679
Disease or Syndrome
Synonyms: Hand-Foot-Genital Syndrome; HFG syndrome; HFGS; HFU syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hand-foot-genital syndrome (702425002); Hand-foot-uterus syndrome (702425002)
 
Gene (location): HOXA13 (7p15.2)
OMIM®: 140000
Orphanet: ORPHA2438

Disease characteristics

Excerpted from the GeneReview: Hand-Foot-Genital Syndrome
Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital abnormalities include: abnormalities of the ureters and urethra and various degrees of incomplete Müllerian fusion in females; hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis are common; fertility is normal. [from GeneReviews]
Authors:
Jeffrey W Innis   view full author information

Additional description

From GHR
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), short feet, and fusion or delayed hardening of bones in the wrists and ankles. 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://ghr.nlm.nih.gov/condition/hand-foot-genital-syndrome

Clinical features

Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Hallux varus
MedGen UID:
107471
Concept ID:
C0546297
Anatomical Abnormality
Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.
Delayed ossification of carpal bones
MedGen UID:
374771
Concept ID:
C1841684
Finding
Ossification of carpal bones occurs later than age-adjusted norms.
Short first metatarsal
MedGen UID:
330663
Concept ID:
C1841688
Finding
Short first metatarsal bone.
Short 5th finger
MedGen UID:
334269
Concept ID:
C1842878
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
Ulnar deviation of the 2nd finger
MedGen UID:
336806
Concept ID:
C1844891
Finding
Displacement of the 2nd (index) finger towards the ulnar side.
Delayed tarsal ossification
MedGen UID:
339625
Concept ID:
C1846853
Finding
Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
Short 1st metacarpal
MedGen UID:
376561
Concept ID:
C1849311
Finding
In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Proximal placement of thumb
MedGen UID:
356033
Concept ID:
C1865572
Finding
Proximal mislocalization of the thumb.
Short hallux
MedGen UID:
400890
Concept ID:
C1865992
Finding
Underdevelopment (hypoplasia) of the big toe.
Short 2nd toe
MedGen UID:
867399
Concept ID:
C4021769
Anatomical Abnormality
Underdevelopment (hypoplasia) of the second toe.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Hallux varus
MedGen UID:
107471
Concept ID:
C0546297
Anatomical Abnormality
Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.
Pseudoepiphyses
MedGen UID:
333889
Concept ID:
C1841685
Finding
Short first metatarsal
MedGen UID:
330663
Concept ID:
C1841688
Finding
Short first metatarsal bone.
Short 5th finger
MedGen UID:
334269
Concept ID:
C1842878
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
Ulnar deviation of the 2nd finger
MedGen UID:
336806
Concept ID:
C1844891
Finding
Displacement of the 2nd (index) finger towards the ulnar side.
Delayed tarsal ossification
MedGen UID:
339625
Concept ID:
C1846853
Finding
Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
Short 1st metacarpal
MedGen UID:
376561
Concept ID:
C1849311
Finding
In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Proximal placement of thumb
MedGen UID:
356033
Concept ID:
C1865572
Finding
Proximal mislocalization of the thumb.
Short hallux
MedGen UID:
400890
Concept ID:
C1865992
Finding
Underdevelopment (hypoplasia) of the big toe.
Short 2nd toe
MedGen UID:
867399
Concept ID:
C4021769
Anatomical Abnormality
Underdevelopment (hypoplasia) of the second toe.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHand foot uterus syndrome
Follow this link to review classifications for Hand foot uterus syndrome in Orphanet.

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

Diagnosis

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
Valentini AL, Giuliani M, Gui B, Laino M, 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
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
Hosoki K, Ohta T, Fujita K, Nishigaki S, Shiomi M, Niikawa N, Saitoh S
Pediatr Int 2012 Jun;54(3):e22-5. doi: 10.1111/j.1442-200X.2011.03550.x. PMID: 22631585

Prognosis

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
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

Clinical prediction guides

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
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
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

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