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.

Small nail

A nail that is diminished in length and width, i.e., underdeveloped nail.


Total: 1

                       


(per page)
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.