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Article

Genetic Syndromes Associated With Congenital Upper Limb Differences.

The Journal of hand surgery - 1 May 2026

Elsherbini Adham, Perlmutter Jonah, Mosa Adam

Abstract excerpt

Congenital upper limb differences occur in approximately 20-30 per 10,000 live births. These differences frequently prompt reconstructive surgery and may present in isolation or as markers of systemic syndromes. Embryologically, limb development depends on coordinated signaling along the proximal-distal (apical ectodermal ridge/fibroblast growth factor [FGF]), radial-ulnar (zone of polarizing activity/sonic...

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Identifiers

PMID: 41689580
DOI: 10.1016/j.jhsa.2026.01.008

Genes

AKT1
FANCA
FGFR2
GLI3
PIK3CA
RASA1
TBX5
TP63

Provenance

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