Clinical phenotypes and Progress of genetic research on split-hand/foot malformation

Abstract

Split hand foot malformation (SHFM) is a developmental defect of the extremities resulting from errors in the initiation and maintenance of the apical ectodermal ridge (AER).The phenotype of SHFM,is extremely complex because of its variability in clinical presentation,irregularities in its inheritance pattern.Both syndromal and nonsyndromal forms are reviewed and the major molecular genetic alterations thus far reported in association with SHFM are discussed.This updated overview should be helpful for clinicians in their efforts to make an appropriate clinical and genetic diagnosis,perform an accurate recurrence risk assessment,and formulate a management plan to intervene SHFM. Key words: Split hand foot malformation; Phenotype; Limb development; Genetic locus