Genetic Syndromes Associated With Congenital Upper Limb Differences

Key Points

• Congenital upper limb differences are often linked to specific genetic syndromes, highlighting their complexity.
• Key syndromes identified include Holt-Oram, VACTERL association, and Poland syndrome, affecting limb formation.
• Assessment includes evaluating genetic markers and molecular pathways to guide clinical management.
• Understanding these syndromes may enable improved diagnostic accuracy and facilitate patient support.