Symbrachydactyly involving hands and feet

Area of Science:

• Developmental biology
• Clinical genetics
• Orthopedics

Background:

• Symbrachydactyly is a congenital limb malformation characterized by shortened digits and webbing.
• It typically affects one hand or foot, with variations in severity and presentation.
• The etiology of symbrachydactyly is often complex and multifactorial.

Observation:

• This report details two patients presenting with a rare combination of symbrachydactyly affecting both the hands and feet.
• The affected limbs exhibited syndactyly (webbing) and oligodactyly (fewer digits).

Findings:

• The observed pattern of symbrachydactyly in both hands and feet in these patients is atypical.
• This rare presentation challenges existing etiological models, specifically the subclavian artery supply disruption sequence.

Implications:

• The findings necessitate a re-evaluation of the pathogenetic mechanisms underlying complex symbrachydactyly.
• Further research into genetic and environmental factors is crucial for understanding and potentially preventing such rare limb malformations.
• This case series may inform diagnostic approaches and genetic counseling for families affected by syndromic limb anomalies.