Pathogenic biallelic variations in WNT10B are responsible for non-syndromic limb malformations. Most patients have typical Split-Hand/Foot Malformation (SHFM) with oligodactyly due to agenesis of central rays. Some patients exhibit complex forms of split hand or split foot, with polydactyly, supernumerary bones or syndactyly/camptodactyly. Teeth agenesis, small or cone-shaped teeth have also been described with heterozygous WNT10Bloss-of-function, nevertheless it seems that patients with SHFM do not have any teeth anomaly.
WNT10B