Synpolydactyly

Definition:

Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation showing digit duplication and webbing of third and fourth fingers. Mutation in HOXD13 induces synpolydactyly. Synpolydactyly 2 is associated with metacarpal and metatarsal synostoses. Synpolydactyly 2 is very rare and caused by mutations in FBLN1.

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]. Frances R Goodman, et al. Limb malformations and the human HOX genes. Am J Med Genet. 2002 Oct 15;112(3):256-65. [Content Brief]

[3]. Nathalie Brison, et al. Limb skeletal malformations - what the HOX is going on?. Eur J Med Genet. 2012 Jan;55(1):1-7. [Content Brief]

[4]. P Debeer, et al. The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. J Med Genet. 2002 Feb;39(2):98-104. [Content Brief]

[5]. S Malik, et al. Synpolydactyly: clinical and molecular advances. Clin Genet. 2008 Feb;73(2):113-20. [Content Brief]

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