Syndactyly

Definition:

Syndactyly (SDTY) is the common hereditary limb malformations depicting the fusion of certain fingers and/or toes. At least nine non-syndromic syndactylies with additional sub-types have been characterized. Most of the syndactyly types are inherited as autosomal dominant but two autosomal recessive and an X-linked recessive entity have also been described.

References:

[1]. A N Akarsu, et al. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet. 1996 Jul;5(7):945-52. [Content Brief]

[2]. Klaus W Kjaer, et al. A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions. Am J Med Genet A. 2005 Nov 1;138(4):328-39. [Content Brief]

[3]. M Sun, et al. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. J Med Genet. 2008 Sep;45(9):589-95. [Content Brief]

[4]. R Richardson, et al. Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet. 2004 Jan;41(1):60-7. [Content Brief]

[5]. Sajid Malik, et al. A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin. Am J Med Genet A. 2004 Apr 1;126A(1):61-7. [Content Brief]

[6]. Sajid Malik, et al. Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type. Am J Hum Genet. 2014 Dec 4;95(6):649-59. [Content Brief]

[7]. Sajid Malik, et al. Syndactyly: phenotypes, genetics and current classification. Eur J Hum Genet. 2012 Aug;20(8):817-24. [Content Brief]

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