Tibial Hemimelia (THM)

Alias:

Congenital Absence of Tibia

Congenital Aplasia and Dysplasia of the Tibia with Intact Fibula

Congenital Longitudinal Deficiency of the Tibia

Tibial Longitudinal Meromelia

Congenital Absence of Tibia with or Without Absence of Some, but Not All, Distal Elements

Congenital Absence of Tibia with or Without Absence of Some Distal Elements

Longitudinal Reduction Defect of Tibia

Tibia, Absence of

Agenesis of Tibia

Thm

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Tibial Hemimelia, also known as congenital absence of tibia, is related to tibia, hypoplasia or aplasia of, with polydactyly and tibial aplasia-ectrodactyly syndrome. An important gene associated with Tibial Hemimelia is GLI3 (GLI Family Zinc Finger 3). Affiliated tissues include bone and heart, and related phenotypes are talipes equinovarus and absent tibia

Related ID：

MALACARDS：TBL008

OMIM：275220

ICD11：1111258427