Hand-foot-genital syndrome

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Hand-Foot-Genital Syndrome
Classification and external resources
Specialty medical genetics
ICD-10 Q51.5
OMIM 194050
DiseasesDB Q51.2
MedlinePlus 140000

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 and hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis are common; fertility is normal.[1]

Diagnosis, genetic basis and inheritance[edit]

Diagnosis is based on physical examination including radiographs of the hands and feet and imaging studies of the kidneys, bladder, and female reproductive tract. HOXA13 is the only gene known to be associated with HFGS. Approximately 60% of mutations are polyalanine expansions. Molecular genetic testing is clinically available.

Hand-foot-genital syndrome is inherited in an autosomal dominant manner. The proportion of cases caused by de novo mutations is unknown because of the small number of individuals described. If a parent of the proband is affected, the risk to the siblings is 50%. When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low. Each child of an individual with HFGS has a 50% chance of inheriting the mutation. Prenatal testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing mutation has been identified in an affected family member.[1]

Additional findings that might be present[edit]

Additional findings that may be present in HFGS according to the latest research are:[2]

  • Limited metacarpophalangeal flexion of the thumb or limited ability to oppose the thumb and fifth finger
  • Hypoplastic thenar eminences
  • Medial deviation of the great toe (hallux varus), a useful diagnostic sign when present
  • Small great toenail
  • Fifth-finger clinodactyly, secondary to a shortened middle phalanx
  • Short feet
  • Altered dermatoglyphics of the hands; when present, primarily involving distal placement of the axial triradius, lack of thenar or hypothenar patterning, low arches on the thumbs, thin ulnar loops (deficiency of radial loops and whorls), and a greatly reduced ridge count on the fingers

Radiographic findings

Urogenital Defects

Females may have the following:

Males may have the following:

  • Retrograde ejaculation (related to structural anomalies and weakness of the bladder sphincter muscle)

References[edit]

[1] [2]

  1. ^ a b c Innis, Jeffrey W; Pagon, RA; Bird, TD; Dolan, CR; Stephens, K (2006). "Hand-Foot-Genital Syndrome". GeneReviews. PMID 20301596. 
  2. ^ a b Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ (2000). "Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome". Am J Hum Genet. 67 (1): 192–202. PMC 1287077Freely accessible. PMID 10839976. doi:10.1086/302961.