About Spondylocarpotarsal synostosis

What is Spondylocarpotarsal synostosis?

Spondylocarpotarsal synostosis is a rare genetic disorder that affects the bones of the spine and feet. It is characterized by the fusion of the vertebrae in the spine and the tarsal bones in the feet. This fusion can cause a variety of physical deformities, including a curved spine, a short stature, and clubfoot. It can also cause neurological problems, such as difficulty walking and balance problems. Treatment typically involves surgery to correct the deformities and physical therapy to help improve mobility.

What are the symptoms of Spondylocarpotarsal synostosis?

The most common symptoms of spondylocarpotarsal synostosis (SCT) include:

-Limited range of motion in the spine and hips
-Pain in the lower back, hips, and legs
-A curved spine (scoliosis)
-A short stature
-A flat foot
-A high arch in the foot
-A short neck
-A prominent shoulder blade
-A protruding chest
-A prominent forehead
-A flat face
-A small jaw
-A small chin
-A short nose
-A wide-set eyes
-A wide mouth
-A wide space between the eyes
-A wide space between the upper and lower jaw
-A wide space between the first and second toes

What are the causes of Spondylocarpotarsal synostosis?

The exact cause of spondylocarpotarsal synostosis is unknown. However, it is believed to be caused by a combination of genetic and environmental factors. Some research suggests that it may be caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). Other possible causes include exposure to certain environmental toxins, such as lead, or a viral infection.

What are the treatments for Spondylocarpotarsal synostosis?

The primary treatment for spondylocarpotarsal synostosis is surgery. The goal of surgery is to correct the deformity and improve the patient’s range of motion. Depending on the severity of the condition, the surgery may involve a combination of osteotomies, fusion, and/or joint reconstruction. In some cases, physical therapy may be recommended to help improve range of motion and strength. In addition, bracing may be used to help support the spine and reduce pain.

What are the risk factors for Spondylocarpotarsal synostosis?

1. Genetic predisposition: Spondylocarpotarsal synostosis is an inherited condition, and it is believed to be caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3).

2. Family history: Individuals with a family history of spondylocarpotarsal synostosis are at an increased risk of developing the condition.

3. Gender: Spondylocarpotarsal synostosis is more common in males than in females.

4. Age: Spondylocarpotarsal synostosis is more common in children and adolescents than in adults.

Is there a cure/medications for Spondylocarpotarsal synostosis?

At this time, there is no known cure for spondylocarpotarsal synostosis. Treatment typically involves surgery to correct the deformity and improve mobility. Medications may be prescribed to help manage pain and inflammation. Physical therapy may also be recommended to help improve range of motion and strength.