Split-hand/foot malformation

Definition:

Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by median clefts of hands and foot. Disrupted formation of the apical ectodermal ridge during development results in central ray deficiency in SHFM patients.

References:

[1]. A M Elliott, et al. Split hand foot malformation (SHFM). Clin Genet. 2005 Dec;68(6):501-5. [Content Brief]

[2]. Donald Basel, et al. The expanding panorama of split hand foot malformation. Am J Med Genet A. 2006 Jul 1;140(13):1359-65. [Content Brief]

[3]. Hanan E Shamseldin, et al. Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. J Med Genet. 2012 Jan;49(1):16-20. [Content Brief]

[4]. Malte Spielmann, et al. Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome Res. 2016 Feb;26(2):183-91. [Content Brief]

[5]. P Ianakiev, et al. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet. 2000 Jul;67(1):59-66. [Content Brief]

[6]. Pascal H G Duijf, et al. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R51-60. [Content Brief]

[7]. S Khan, et al. A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. Clin Genet. 2012 Jul;82(1):48-55. [Content Brief]

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