Tibial Aplasia-Ectrodactyly Syndrome

Tibial Aplasia-Ectrodactyly Syndrome(来自ICD-11)

别称:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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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