split-hand/foot malformation type 6

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split-hand/foot malformation type 6

An autosomal recessive limb malformation disorder (OMIM:225300) involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals and metatarsals.

Molecular pathology
Defects in WNT10B, which encodes a signalling molecule involved in adipogenesis, cause split-hand/foot malformation type 6.
References in periodicals archive ?
Of the 6 SHFM types, to date only three (SHFM1, SHFM4, SHFM6) have been solved at the gene level6.
To date five mutations including three from Pakistani population have been reported all over the world causing SHFM6 phenotypes.