Ulna and Fibula, Absence of, with Severe Limb Deficiency (LPHAS)

Ulna and Fibula, Absence of, with Severe Limb Deficiency, also known as schinzel phocomelia syndrome, is related to fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly and synostosis. An important gene associated with Ulna and Fibula, Absence of, with Severe Limb Deficiency is WNT7A (Wnt Family Member 7A). Affiliated tissues include uterus and bone, and related phenotypes are aplasia/hypoplasia of the extremities and bowing of the long bones