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Background  Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in  GLI3  have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies.    Case presentation  The patient was a 2-year-old boy who underwent surgery in our hospital. The right hand and left foot of the patient were labelled as postaxial polydactyly type B, and there was cutaneous webbing between the 3rd and 4th fingers of the left hand. We identified a novel c. 1622C > T variant in  GLI3  leading to an isolated postaxial synpolydactyly.    Conclusions  The patient carries a novel autosomal dominant heterozygous missense mutation. This mutation c.1622C > T;p.(Thr541Met) in the  GLI3  gene may affect the normal function of the zinc finger domain (ZFD) in a different way. However, it seems that more research is needed to determine the exact effects of this mutation.

A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report