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ENTibial Aplasia-Ectrodactyly Syndrome
Alias:
Split-Hand/foot Malformation Associated with Aplasia of Long Bones
Split Hand/foot Malformation with Long Bone Deficiency
Aplasia of Tibia with Split-Hand/split-Foot Deformity
Tibial Hemimelia with Split Hand/foot Malformation
Shfm Associated with Aplasia of Long Bones
Tibial Hemimelia-Ectrodactyly Syndrome
Shfld Syndrome
Th-Shfm
Tibial Aplasia Ectrodactyly
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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
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