Tibial Aplasia-Ectrodactyly Syndrome

Tibial Aplasia-Ectrodactyly Syndrome, also known as split-hand/foot malformation associated with aplasia of long bones, is related to split-hand/foot malformation with long bone deficiency 2 and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Tibial Aplasia-Ectrodactyly Syndrome is BHLHA9 (Basic Helix-Loop-Helix Family Member A9). Affiliated tissues include bone and heart, and related phenotypes are split hand and limitation of joint mobility