Families

Split-Hand/Foot Malformation (SHFM) due to WNT10B variations is a congenital limb malformation affecting hands and feet. Patients exhibit digits and/or toes agenesis, and their hands and feet have split aspect. This could also be named cleft hands and/or feet. The patients exhibit central rays defect with an absence of the 2nd, 3rd and/or 4th fingers and/or toes. Sometimes the malformation is more complex, with supernumerary bones or fusion of digits and/or toes. Feet are often more affected than hands, with typical split feet (only 2 present toes, the 1st and the 5th).

There is no other health issue or associated malformation in SHFM6 families. The prevalence of malformation due to variations in WNT10B is unknown, but it represents a very small part of the SHFM occurring every 1/18000 birth. Typical and severe form of this syndrome is autosomal recessive, with 25% risk of recurrence in siblings. WNT10B gene is also responsible for teeth agenesis without SHFM in some heterozygous individuals.