GTR Home > Conditions/Phenotypes > Hand foot uterus syndrome

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.

Available tests

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Associated genes

Clinical features

  • Strabismus
  • Sacral dimple
  • Vesicoureteral reflux
  • Longitudinal vaginal septum
  • Pseudoepiphyses
  • Hallux varus
  • Short first metatarsal
  • Delayed tarsal ossification
  • Short hallux
  • Shortening of all middle phalanges of the fingers
  • Ventricular septal defect
  • Proximal placement of thumb
  • Abnormality of female internal genitalia
  • Recurrent urinary tract infections
  • Chordee
  • Hypospadias
  • Bifid scrotum
  • Micropenis
  • Ureteropelvic junction obstruction
  • Renal insufficiency
  • Abnormality of the outer ear
  • Postaxial hand polydactyly
  • Abnormality of the metacarpal bones
  • Delayed ossification of carpal bones
  • Small thenar eminence
  • Short 2nd toe
  • Uterus didelphys
  • Clinodactyly of the 5th finger
  • Synostosis of carpal bones
  • Spontaneous abortion
  • Abnormal dermatoglyphics
  • Tarsal synostosis
  • Short 5th finger
  • Ulnar deviation of the 2nd finger
  • Aplasia/Hypoplasia of the thumb
  • Short distal phalanx of finger
  • Short 1st metacarpal
  • Aplastic/hypoplastic toenail
  • Displacement of the external urethral meatus
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