Title:Advances in the Molecular Genetics of Non-syndromic Syndactyly
Volume: 16
Issue: 3
Author(s): Hao Deng and Ting Tan
Affiliation:
Keywords:
Heterogeneity, Limb malformation, Molecular genetics, Mutation, Syndactyly, Webbed digits.
Abstract: Syndactyly, webbing of adjacent digits with or without bony fusion, is one of the most
common hereditary limb malformations. It occurs either as an isolated abnormality or as a component
of more than 300 syndromic anomalies. There are currently nine types of phenotypically diverse nonsyndromic
syndactyly. Non-syndromic syndactyly is usually inherited as an autosomal dominant trait,
although the more severe presenting types and subtypes may show autosomal recessive or X-linked
pattern of inheritance. The phenotype appears to be not only caused by a main gene, but also dependant
on genetic background and subsequent signaling pathways involved in limb formation. So far, the
principal genes identified to be involved in congenital syndactyly are mainly involved in the zone of polarizing activity
and sonic hedgehog pathway. This review summarizes the recent progress made in the molecular genetics, including
known genes and loci responsible for non-syndromic syndactyly, and the signaling pathways those genetic factors involved
in, as well as clinical features and animal models. We hope our review will contribute to the understanding of underlying
pathogenesis of this complicated disorder and have implication on genetic counseling.
