What are the common associations of Congenital Talipes Equinovarus (CTEV)?

Common Associations of Congenital Talipes Equinovarus (CTEV)

Congenital Talipes Equinovarus (clubfoot) is most commonly associated with spinal cord malformations, chromosomal abnormalities, and musculoskeletal system disorders, with approximately 21% of cases having associated anomalies. 1

Neurological Associations

Spinal Cord Malformations

• Neural tube defects including myelomeningocele (MMC) 2
• Tethered cord syndrome - persistent anatomic connection between neuroectoderm and cutaneous ectoderm 2
• Split cord malformations (SCM) - both Type I (two hemicords in separate dural sacs) and Type II (two hemicords in single dural sac) 2
• Dermal sinus tracts (DSTs) - arising from failed dysjunction 2

Cutaneous Markers of Associated Neural Malformations

• Hairy patches ("fawn's tail") - most common cutaneous manifestation of split cord malformation 2
• Capillary malformations - may indicate underlying spinal dysraphism 2
• Dimples - particularly those located on the flat portion of the sacrum 2
• Subcutaneous masses - may indicate lipomas or other spinal malformations 2

Syndromic Associations

Chromosomal Abnormalities (6.1% of cases) 1

• 22q11.2 deletion syndrome (DiGeorge syndrome) - present in approximately 15% of patients with tetralogy of Fallot and clubfoot 2
• Trisomies and other chromosomal disorders 1

Recognized Syndromes (4.2% of cases) 1

• Arthrogryposis multiplex congenita - most common syndromic association 1
• VACTERL association - Vertebral defects, Anal atresia, Cardiac defects, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities 3

Cardiovascular Associations

• Congenital heart defects - particularly conotruncal defects 2
• Tetralogy of Fallot - commonly associated with 22q11.2 deletion and clubfoot 2
• Patent ductus arteriosus - may be seen in conjunction with clubfoot 2
• Ebstein's anomaly - can be associated with clubfoot 2

Other System Associations

• Urinary system anomalies - including renal agenesis or ectopic kidneys 1
• Orofacial anomalies - cleft palate/lip 1
• Musculoskeletal system anomalies - beyond the foot deformity itself 1
• Central nervous system anomalies - including brain malformations 1

Epidemiology of Associated Anomalies

• Overall prevalence of associated anomalies: 21.2% of CTEV cases 1
• Bilateral CTEV is present in approximately 53% of affected infants 4
• Male predominance: 65% of affected infants 4
• Prevalence of CTEV: 13.02 per 10,000 births 1

Clinical Implications

Diagnostic Evaluation

• Complete neurological examination is essential for all infants with CTEV
• Spinal imaging should be considered, particularly with cutaneous markers
• Cardiac evaluation including echocardiography when indicated
• Genetic testing should be considered, especially with multiple anomalies or dysmorphic features

Treatment Considerations

• Ponseti method remains the gold standard treatment with 91.1% initial success rate, even with associated anomalies 5
• Higher recurrence risk may be present in syndromic cases
• Non-compliance with foot abduction brace significantly increases recurrence risk (OR=8.4) 4
• Surgical complications may be more common in cases with vascular anomalies 6

Monitoring and Follow-up

• Regular developmental screening for children with associated anomalies
• System-specific surveillance based on identified associations
• Longer follow-up may be needed for cases with neurological associations

Understanding these associations is crucial for early identification of potentially serious conditions that may affect the child's overall morbidity, mortality, and quality of life beyond the foot deformity itself.