Abstract: Split-hand/foot malformation(SHFM)is a severe congenital malformation with hand/foot crack,syndactyly and hypoplasia of phalange and metacarpal. SHFM, characterized by defect or dysplasia of central rays and fusion of other rays, occurs as an isolated trait or a part of congenital anomaly syndrome. By far, 7 chromosomal loci associated with isolated SHFM have been confirmed, i.e., SHFM1-6 and SHFM/SHFLD. SHFM1, SHFM3, SHFM4 and SHFM5 are related with chromosomal rearrangement,including genomic small-scale deletion and duplication.SHFLD mainly relates to duplication of chromosome section. SHFM2 and SHFM6 have low frequency and the mechanism is not yet clear. In this paper, the gene mutations,frequency,test method,corresponding genetic counseling and their mechanism were all reviewed.

Key words: Split-hand/foot malformation, Molecular genetics, Genetic diagnosis, Genetic counseling