Preaxial polydactyly

Definition:

Polydactyly is the most common hereditary limb anomaly characterized by extra fingers. Preaxial polydactyly (PPD) refers to polydactyly where the additional digit grows toward the first digit of the hand or foot. Mutations in genes including GLI1, GL3 and SHH/ZRS, involved in Hedgehog pathway, result in PPD.

References:

[1]. Asmat Ullah, et al. A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly. Clin Genet. 2019 Apr;95(4):540-541. [Content Brief]

[2]. Julia E VanderMeer, et al. A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. Hum Mutat. 2014 Aug;35(8):945-8. [Content Brief]

[3]. Muhammad Umair, et al. Clinical Genetics of Polydactyly: An Updated Review. Front Genet. 2018 Nov 6;9:447. [Content Brief]

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