About Craniosynostosis, Philadelphia type

What is Craniosynostosis, Philadelphia type?

Craniosynostosis, Philadelphia type is a rare genetic disorder that affects the development of the skull. It is caused by a mutation in the FGFR2 gene and is characterized by premature fusion of the sutures of the skull, resulting in an abnormally shaped head. This condition can also cause other abnormalities, such as facial asymmetry, hearing loss, and intellectual disability. Treatment typically involves surgery to correct the skull shape and to prevent further complications.

What are the symptoms of Craniosynostosis, Philadelphia type?

The symptoms of Craniosynostosis, Philadelphia type, include:

-A triangular-shaped head
-A prominent forehead
-A flat back of the head
-Widely spaced eyes
-A short nose
-A small lower jaw
-A high-arched palate
-A flattened bridge of the nose
-A wide space between the eyes
-A wide space between the upper and lower jaw
-A wide space between the ears
-A wide space between the eyes and the ears
-A wide space between the eyes and the nose
-A wide space between the eyes and the mouth
-A wide space between the nose and the mouth
-A wide space between the ears and the mouth
-A wide space between the upper and lower jaw
-A wide space between the upper and lower teeth
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What are the causes of Craniosynostosis, Philadelphia type?

The exact cause of craniosynostosis, Philadelphia type is unknown. However, it is believed to be caused by a combination of genetic and environmental factors. Genetic factors may include mutations in the FGFR2 gene, which is responsible for the production of a protein that helps regulate the growth of the skull. Environmental factors may include exposure to certain medications, toxins, or radiation during pregnancy.

What are the treatments for Craniosynostosis, Philadelphia type?

The primary treatment for craniosynostosis, Philadelphia type, is surgery. The goal of the surgery is to reshape the skull and allow for normal brain growth. Depending on the severity of the condition, the surgery may involve removing a portion of the skull, reshaping the skull, and/or using plates and screws to hold the skull in place. In some cases, a combination of these techniques may be used. In addition to surgery, physical therapy may be recommended to help with any motor delays or other issues that may arise due to the condition.

What are the risk factors for Craniosynostosis, Philadelphia type?

1. Family history of the disorder
2. Maternal diabetes
3. Maternal use of certain medications during pregnancy
4. Maternal alcohol or drug use during pregnancy
5. Low birth weight
6. Premature birth
7. Exposure to certain environmental toxins
8. Genetic mutations or chromosomal abnormalities

Is there a cure/medications for Craniosynostosis, Philadelphia type?

Yes, there is a cure for Craniosynostosis, Philadelphia type. The most common treatment is surgery to correct the skull shape and allow for normal brain growth. Medications may also be prescribed to reduce swelling and inflammation, and to help control seizures.