Isolated and Syndromic Talipes Equinovarus in Children: Differences in Clinical Presentation and Quality of Life

Talipes equinovarus (TEV) is a congenital foot deformity that can present either in an isolated form or as part of a syndromic condition. In syndromic TEV, dysmorphic features, systemic anomalies, and developmental delay are more frequently observed. This study aims to evaluate the differences in clinical characteristics, dysmorphic findings, and quality of life between isolated and syndromic forms of TEV in children.

Ninety TEV patients (37 syndromic, 53 isolated) diagnosed between 2010 and 2022 were included. Demographic and clinical data were retrospectively reviewed. Additional anomalies and dysmorphic features were prospectively assessed. Quality of life in children aged ≥2 years and their caregivers was evaluated using the Pediatric Quality of Life Inventory (PedsQL).

Consanguinity, low birth weight and developmental delay were significantly more frequent in the syndromic TEV group (P=.005, P=.014, P=.014), with central nervous system anomalies being the most common. The PedsQL scores were highest in controls, followed by isolated TEV, and lowest in syndromic TEV (P < .001, P < .001). Quality of life was negatively correlated with dysmorphic feature count (P < .001).

Quality of life in children with syndromic TEV is significantly affected by physical and psychosocial factors. Syndromic TEV is associated with a more complex clinical course and lower quality of life compared to the isolated form. Early diagnosis, clinical genetic evaluation, multidisciplinary management, and psychosocial support may enhance treatment success and quality of life.