Guttmacher syndrome

Definition:

Guttmacher syndrome is a disorder of distal limb and genital tract that resembles hand-foot-genital syndrome (HFGS). In addition to the typical features of HFGS, namely the combination of hypoplastic thumbs and halluces, 5th finger clinobrachydactyly and hypospadias, Guttmacher syndrome displays postaxial polydactyly of the hands and short or uniphalangeal 2nd toes with absent nails.

References:

[1]. Jeffrey W Innis, et al. A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Hum Mutat. 2002 May;19(5):573-4. [Content Brief]

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