Patella aplasia-coxa vara-tarsal synostosis syndrome

Patella aplasia-coxa vara-tarsal synostosis syndrome (also known as Scott-Taor syndrome) is an extremely rare genetic skeletal disorder characterized by a triad of congenital absence or severe underdevelopment of the kneecaps (patella aplasia or hypoplasia), an abnormal angle of the femoral neck leading to a deformity of the hip joint (coxa vara), and fusion of the tarsal bones in the feet (tarsal synostosis or coalition). These skeletal abnormalities primarily affect the musculoskeletal system, particularly the lower extremities, and can lead to difficulties with walking, joint pain, limited range of motion in the hips and feet, and abnormal gait. Patients may present in childhood with knee instability, hip pain, flat feet, or reduced mobility. The condition was first described in a small number of families, and the genetic basis remains incompletely characterized. Given the pattern of affected individuals reported in the literature, an autosomal dominant mode of inheritance has been suggested, though the responsible gene has not been definitively identified. Diagnosis is typically made through clinical examination and radiographic imaging of the knees, hips, and feet, which can reveal the characteristic skeletal anomalies. There is no specific cure for this syndrome. Treatment is symptomatic and supportive, focusing on orthopedic management. This may include physical therapy to maintain joint mobility and muscle strength, orthotic devices for foot support, and surgical interventions when necessary — such as corrective osteotomy for coxa vara or surgical resection of tarsal coalitions if they cause significant pain or functional limitation. Long-term orthopedic follow-up is recommended to monitor skeletal development, particularly during growth periods in childhood and adolescence.

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