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Polysyndactyly

Definition:

Polysyndactyly, also known as preaxial polydactyly type IV, is a rare autosomal dominant limb malformation, caused by mutations in the GLI3 gene. It is comprising duplicated halluces, with syndactyly of preaxial toes, broad or duplicated thumbs, and syndactyly of the third and fourth fingers. GLI3 is regarded as a mediator of sonic hedgehog signaling regulating development at multiple sites such as the limbs, the lungs, and the brain.

References:

[1]. H Fujioka, et al. Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. Clin Genet. 2005 May;67(5):429-33. [Content Brief]

[2]. U Radhakrishna, et al. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet. 1999 Sep;65(3):645-55. [Content Brief]

[3]. Zissis Paparidis, et al. Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression. Dev Growth Differ. 2007 Aug;49(6):543-53. [Content Brief]

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