Advancements in Genetic Engineering
Open Access
ISSN: 2169-0111
+44 1478 350008
ISSN: 2169-0111
+44 1478 350008
Xiao Yan Tian
Indiana
Review Article
Congenital Ectrodactyly and Its Genetic Linkage
Author(s): Xiu Quan Zhang, Yu Ting Zhang, Lin Li, Xiao Yan Tian, Wei Biao Lu and Yuan Qing ZhouXiu Quan Zhang, Yu Ting Zhang, Lin Li, Xiao Yan Tian, Wei Biao Lu and Yuan Qing Zhou
Congenital ectrodactyly is usually clinically characterized with phalangeal dysplasia. Severe cases may be manifested with median split of hand and foot and/or combined with fusion of the rest fingers and toes, named a syndrome of split hand/foot malformation (SHFM). Some severe patients may be accompanied by ectodermal and craniofacial dysplasia, mental retardation and orofacial fissure. Till now there were seven types of SHFM reported. Among them, SHFM1, SHFM3, SHFM4, and SHFM5 are autosomal dominant, SHFM6 is autosomal recessive, SHFM2 is X-linked inheritance, and SHFLD manifested as autosomal incomplete dominant inheritance. The related genes are DSSI, DLX5, and DLX6 at 7q21.3-q22.1 (SHFM1), FGF3 and TDU at Xq26 (SHFM2), HUG1?TLX1?LBX1?BTRC?POLL?FBXW4 at 10q24 (SHFM3), TP63 .. View More»