Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India

Am J Med Genet A. 2024 May;194(5):e63520. doi: 10.1002/ajmg.a.63520. Epub 2024 Jan 2.

Abstract

Split-hand/foot malformation (SHFM) is a genetically heterogeneous congenital limb reduction defect characterized by the deficiencies of central rays of the autopod. Tandem duplications at 10q24 locus account for approximately 20% of all SHFM cases. Here, we report five affected individuals from four unrelated Indian families with SHFM3 caused by microduplication of 10q24 locus showing varied clinical presentations. This report substantiates and extends the current understanding of this rare, multifaceted, and complex condition.

Keywords: SHFM; Split hand and foot malformation; cleft hand; dactylin; ectrodactyly; monodactyly.

Publication types

  • Case Reports

MeSH terms

  • Foot Deformities, Congenital* / diagnosis
  • Foot Deformities, Congenital* / genetics
  • Hand Deformities, Congenital* / diagnosis
  • Hand Deformities, Congenital* / genetics
  • Humans
  • India / epidemiology
  • Limb Deformities, Congenital* / diagnosis
  • Limb Deformities, Congenital* / genetics
  • Pedigree