congenital vertical talus

Congenital vertical talus is a rare structural deformity of the foot that is evident at birth, characterized by a dislocation of the talonavicular joint which results in a near-vertical orientation of the talus on radiographs. This condition is linked to genetic variants in the HOXD10 gene, which plays a role in limb development. It is present at birth and affects both sexes, with severity and specific features varying considerably among individuals. Given the unknown prevalence, the condition is understood primarily through clinical recognition and genetic evaluation.

The clinical features of congenital vertical talus are centered on abnormalities of the foot structure. Nearly all affected individuals present with equinus calcaneus, and many exhibit Achilles tendon contractures, abnormalities of the foot musculature, rocker bottom foot, and pes valgus. In addition, some individuals may develop lower extremity joint dislocation, pes planus, and experience foot or ankle pain, while others might show signs of distal arthrogryposis or even myelomeningocele and hyperplastic callus formation. That not all individuals experience all features, and severity varies widely between individuals.

Pathogenic variants in the HOXD10 gene are associated with congenital vertical talus. HOXD10 is involved in the proper development of limbs, and when variants occur in this gene, they can disrupt normal foot formation. The condition is inherited in an autosomal dominant pattern, meaning a single copy of a variant may be sufficient to cause the deformity. However, even within the same family, the severity and specific manifestations of the condition can vary considerably (variable expressivity), and having a variant does not guarantee that all clinical features will be present.

Currently, management of congenital vertical talus focuses on supportive care and symptom management, as there are no FDA-approved or foundational therapies specifically for this condition. Treatment typically involves a multidisciplinary team which may include orthopedic specialists and physical therapists who work together to optimize foot alignment and function. In addition, genetic counseling is recommended to help families understand the implications of the autosomal dominant inheritance pattern for family planning. Patients should discuss treatment options with their healthcare team to determine which strategies may be most appropriate for their individual situation.

The outlook for individuals with congenital vertical talus is variable, with outcomes depending on the severity of the deformity, the timing of diagnosis, and access to specialized care. With current standards of care and appropriate supportive interventions, many individuals achieve improved function and quality of life despite the structural challenges of the foot. Outcomes described in medical literature continue to evolve as standards of care improve, and families often find it helpful to connect with specialists familiar with the condition and genetic counseling services. It is important to remember that not all individuals experience the same degree of symptoms, and the overall course can range from stabilization to later functional challenges.