Pathogenic variations in WNT10Bare responsible for isolated limb malformations. Most patients have typical Split-Hand/Foot Malformation (SHFM) with absence of central rays. Some patients exhibit complex form of split hand or split foot, with supernumerary bones or fingers/toes deformity. Teeth agenesis, small or cone-shaped teeth have also been described with heterozygous WNT10B loss-of-function, nevertheless it seems that patients with SHFM6 do not have any teeth anomaly.
WNT10B