About Familial scaphocephaly syndrome, McGillivray type

What is Familial scaphocephaly syndrome, McGillivray type?

Familial scaphocephaly syndrome, McGillivray type is a rare genetic disorder characterized by an abnormally long and narrow head shape (scaphocephaly) and other physical features. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner. Affected individuals may also have distinctive facial features, including a prominent forehead, a small chin, and a wide mouth with full lips. Other features may include hearing loss, developmental delay, and skeletal abnormalities. Treatment is based on the individual's symptoms and may include physical therapy, speech therapy, and surgery.

What are the symptoms of Familial scaphocephaly syndrome, McGillivray type?

The symptoms of Familial scaphocephaly syndrome, McGillivray type include:

-A long, narrow head shape (scaphocephaly)
-A prominent forehead
-A flat occiput (back of the head)
-A small chin
-A high-arched palate
-A small lower jaw (micrognathia)
-Widely spaced eyes (hypertelorism)
-Low-set ears
-Hearing loss
-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Heart defects
-Kidney abnormalities
-Cleft lip and/or palate
-Craniosynostosis (premature fusion of the skull bones)
-Abnormalities of the hands and feet

What are the causes of Familial scaphocephaly syndrome, McGillivray type?

Familial scaphocephaly syndrome, McGillivray type is caused by a mutation in the FGFR2 gene. This gene is responsible for the production of a protein that helps regulate the growth and development of cells in the body. The mutation in this gene causes the head to become abnormally long and narrow, resulting in the characteristic scaphocephaly.

What are the treatments for Familial scaphocephaly syndrome, McGillivray type?

1. Surgery: Surgery is the most common treatment for McGillivray Syndrome. The goal of surgery is to correct the shape of the skull and improve the appearance of the face. Surgery may involve reshaping the skull, removing excess bone, and repositioning the facial bones.

2. Physical Therapy: Physical therapy can help improve the range of motion of the neck and head, as well as improve posture.

3. Speech Therapy: Speech therapy can help improve communication skills and help with any speech delays.

4. Occupational Therapy: Occupational therapy can help improve fine motor skills and help with any learning delays.

5. Counseling: Counseling can help with any emotional issues that may arise due to the condition.

What are the risk factors for Familial scaphocephaly syndrome, McGillivray type?

1. Family history of the disorder
2. Genetic mutation in the FGFR2 gene
3. Maternal exposure to certain medications during pregnancy
4. Maternal diabetes
5. Maternal obesity
6. Maternal smoking
7. Maternal alcohol consumption
8. Advanced maternal age

Is there a cure/medications for Familial scaphocephaly syndrome, McGillivray type?

At this time, there is no known cure for Familial Scaphocephaly Syndrome, McGillivray type. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, speech therapy, and occupational therapy. Surgery may also be recommended to correct the head shape. Additionally, medications such as muscle relaxants and anticonvulsants may be prescribed to help manage muscle spasms and seizures.