Patella aplasia, coxa vara, tarsal synostosis

Patella Aplasia, Coxa Vara, Tarsal Synostosis is a rare orthopedic condition characterized by the underdevelopment or absence of the patella (kneecap), the deformity of the hip known as coxa vara, and the fusion of the tarsal bones in the foot, a condition known as tarsal synostosis. This condition affects the development and function of the joints involved, leading to a range of mobility issues and potential discomfort or pain for the individual.

Etiology

The exact cause of Patella Aplasia, Coxa Vara, Tarsal Synostosis is not well understood, but it is believed to involve genetic factors that affect the development of bones during fetal growth. It may occur as an isolated condition or as part of a syndrome involving other skeletal abnormalities.

Symptoms

Individuals with this condition may exhibit a variety of symptoms including:

• Absence or underdevelopment of the patella
• Hip deformity leading to a decreased angle of the femoral neck (coxa vara)
• Fusion of the tarsal bones in the foot, leading to restricted foot movement
• Difficulty walking or a limp
• Pain in the hips, knees, or feet due to abnormal joint stress

Diagnosis

Diagnosis of Patella Aplasia, Coxa Vara, Tarsal Synostosis typically involves a combination of physical examination and imaging studies. X-rays are crucial for visualizing the bone abnormalities characteristic of this condition. In some cases, advanced imaging techniques such as MRI (Magnetic Resonance Imaging) or CT scan (Computed Tomography) may be used to assess the extent of the condition and plan treatment.

Treatment

Treatment for Patella Aplasia, Coxa Vara, Tarsal Synostosis is tailored to the individual's symptoms and the severity of their condition. Options may include:

• Physical therapy to improve joint function and mobility
• Orthotic devices to support the affected joints and improve walking ability
• Surgical intervention to correct bone deformities or to separate fused bones, depending on the specific abnormalities present

Prognosis

The prognosis for individuals with Patella Aplasia, Coxa Vara, Tarsal Synostosis varies depending on the severity of the condition and the effectiveness of treatment. Early intervention and tailored treatment plans can help manage symptoms and improve quality of life.

See Also

• Orthopedic surgery
• Genetic disorders
• Bone dysplasia