Clubfoot

Basics

DESCRIPTION

  • Clubfoot (talipes equinovarus) is a complex foot deformity consisting of four components:
    • Equinus (plantar flexion)
    • Hindfoot varus (toward the midline)
    • Forefoot adductus
    • Midfoot cavus (high arch with overextension)
  • Untreated clubfoot can prevent the development of normal gait and result in secondary bone changes leading to lifetime disability.

EPIDEMIOLOGY

  • Familial occurrence in 25%
  • Male > female (2.5:1)
  • 50% of cases are bilateral.
  • Clubfoot is the most common congenital deformity of the lower extremity.
  • 1 to 2:1,000 births in United States
  • Lowest prevalence in Chinese, 0.39:1,000
  • Highest prevalence in Polynesians, 7:1,000

PATHOPHYSIOLOGY

  • Both intrinsic and extrinsic causes have been associated with the development of clubfoot.
  • Intrinsic causes:
    • Neurogenic (spina bifida)
    • Muscular (anomalous or atrophic musculature)
    • Vascular (hypoplastic anterior tibial artery)
    • Connective tissue diseases (arthrogryposis, Loeys-Dietz syndrome)
    • Abnormal primary bone formation
    • Interruption of the transcriptional pathway PITX1-TBX4 which is critical to early limb development has been linked to development of clubfoot and similar deformities.
  • Extrinsic causes:
    • Intrauterine immobility (multiple gestations, malpresentation, uterine abnormalities, oligohydramnios)
    • Maternal cigarette smoke exposure

ETIOLOGY

  • Most cases (80%) are idiopathic (multifactorial with genetic and environmental influences).
  • Remaining cases likely associated with associated structural, genetic, and/or chromosomal anomalies
  • Rapid recurrence of deformity should prompt a thorough examination for possible underlying neuromuscular etiologies.

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