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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD26 Syndromes with limb anomalies as a major feature
H00859 Guttmacher syndrome
