clubfoot

Clubfoot is the most common congenital foot deformation, occurring in approximately 1 in 1,000 live births. The most common presentation, talipes equinovarus, is marked by a sharply turned downward and inward foot. Research has linked this condition to pathogenic variants in the PITX1 gene, which is inherited in an autosomal dominant manner. Although clubfoot is often identified at birth, the clinical presentation can vary, with some individuals exhibiting additional skeletal or craniofacial features.

Affected individuals typically present with bilateral talipes equinovarus, a defining clinical feature observed in the majority of cases. Short stature is universally noted, and many individuals also exhibit craniofacial features such as a depressed nasal bridge, low-set ears, and downslanted palpebral fissures. In addition, a significant number show other skeletal anomalies, including mirror image foot polydactyly, absent tibia, patellar hypoplasia, median cleft palate, and anomalies in brain structures like hypoplasia of the corpus callosum. Not all individuals experience all features, and severity varies considerably from one person to another.

Clubfoot has been associated with changes in the PITX1 gene, which plays a crucial role in the development of the lower limbs. Disruptions in the normal function of PITX1 can impair proper foot formation. This condition is inherited in an autosomal dominant pattern, meaning that one altered copy of the gene may lead to the phenotype. However, having the genetic variant does not guarantee that every individual will exhibit every characteristic, with variable expressivity being common. Families are encouraged to seek genetic counseling for further guidance on inheritance and family planning.

Currently, management focuses on supportive care and symptom management since there are no FDA-approved or established foundational therapies specifically linked to clubfoot. Treatment is tailored to the individual, often involving a multidisciplinary team that may include orthopedic specialists, physical therapists, and genetic counselors. Options such as early intervention, various supportive therapies, and, in some cases, surgical correction are considered based on the severity of the deformity. Patients should discuss treatment options with their healthcare team to determine the most appropriate approach for their situation.

The outlook for clubfoot is generally favorable, particularly when timely intervention and modern supportive care are implemented. Outcomes vary depending on the severity of the deformity and the presence of additional anomalies, and the clinical course can range from mild impairment to more significant challenges. It is important to recognize that severity and symptoms vary widely between individuals, and outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with genetic counselors and specialized orthopedic care teams to discuss long-term management and support options.

Clubfoot remains an active area of research, with numerous ongoing clinical trials exploring new treatment approaches. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.