Mutations in HODX13 and ZRS/LMBR1 Genes and Chromosomal Abnormalities Cause Congenital Limb Defects

Abstract

Congenital limb defects occur when a portion or the entire upper or lower limb fails to form normally. The most common congenital limb defects include complete or partial absence of the limb, failure of the portion of the limb to separate, duplication, overgrowth or undergrowth of the limb. Presently, congenital limb defects are treated by the use of prosthetic devices, which are mostly valuable for lower-limb deficiencies and for completely or almost completely absent upper limbs. The most common known causes for congenital limb defects are genetic mutations and chromosomal abnormalities. However, details about how they exert their effect are still less understood. Keywords: