Abstract
Background: Postaxial polydactyly (PAP) is one of the commonest congenital malformations and usually is associated to several syndromes. There is no primary investigational strategy for PAP cases with single gene disorder in literature. PAP cases with single gene disorder can be classified according to common pathways and molecular basis. Molecular classification may help in diagnostic approach.Materials and Methods: All single gene disorders associated with PAP reported on PubMed and OMIM are analyzed and classified according to molecular basis.Results: Majority of genes related to cilia structure and functions are associated with PAP, so we classified them as ciliopathies and non-ciliopathies groups. Genes related to Shh–Gli3 pathway was the commonest group in non-ciliopathies.Conclusion: Genes related to cilia are most commonly related to PAP due to their indirect relationship to Shh–Gli3 signaling pathway. Initially, PAP may be the only clinical finding with ciliopathies so those cases need follow up. Proper diagnosis is helpful for management and genetic counseling. Molecular approach may help to define pleiotropy.
Highlights
Postaxial polydactyly (PAP) is defined as an extra digit or a part of digit on the ulnar or fibular side of hand or foot
Majority of genes related to cilia structure and functions are associated with PAP, so we classified them as ciliopathies and non-ciliopathies groups
Genes related to sonic hedgehog (Shh)–Gli3 pathway was the commonest group in non-ciliopathies
Summary
Postaxial polydactyly (PAP) is defined as an extra digit or a part of digit on the ulnar or fibular side of hand or foot. PAP is more common (75%) than preaxial polydactyly (25%). About 8% of cases with bilateral PAP in upper and lower limbs are frequently associated with multiple congenital anomalies. PAP is clinically classified into type A with fully developed extra digit and type B with incompletely developed digit [4]. Postaxial polydactyly (PAP) is one of the commonest congenital malformations and usually is associated to several syndromes. There is no primary investigational strategy for PAP cases with single gene disorder in literature. PAP cases with single gene disorder can be classified according to common pathways and molecular basis.
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