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Updated: Jan 4, 2026

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Split hand/foot malformation associated with 20p12.1 deletion: A case report.

Lyse Ruaud1, Ricarda Flöttmann2, Malte Spielmann2

  • 1Centre de Génétique Humaine, CHU Besançon, Université de Franche -Comté, Besançon, France; Université de Paris, NeuroDiderot, INSERM, F-75019 Paris, France; Service de génétique clinique, APHP, Hôpital Robert Debré, F-75019 Paris, France.

European Journal of Medical Genetics
|November 8, 2019
PubMed
Summary

Split hand/foot malformation (SHFM) is a rare limb malformation. A 20p12.1 microdeletion involving MACROD2 was identified as a potential cause of SHFM in a patient with sparse hair and freckles.

Keywords:
20p12.1 deletionKIF16BMACROD2Positional effectSplit hand/foot malformation

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