Hand-foot-genital syndrome

Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.

Short thumb

Hypoplasia (congenital reduction in size) of the thumb.


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PMID (PMCID)
24934387
 FEMALE Infant, Newborn
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.
Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Ikegawa S, Matsumoto N, Miyake N.
Am J Med Genet A. 2014;164A(9):2398-402.
Heterozygous HOXA13 mutations have been previously reported in hand-foot-genital syndrome and Guttmacher syndrome, which are variably associated with small nails, short distal and middle phalanges, short thumbs and halluces, but not absent nails.