split-hand/foot malformation type 6

(redirected from ectrodactyly, autosomal recessive)

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.