Guttmacher syndrome

Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.

Small nail

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


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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.