Freeman Sheldon Syndrome, also known as Windmill Vane Hand Syndrome, is a rare genetic disorder characterized by craniofacial, skeletal, and muscular abnormalities. It is caused by a mutation in the gene that codes for the protein filamin A. Symptoms include a distinctive facial appearance, joint contractures, and skeletal abnormalities.

The most common symptoms of Freeman Sheldon Syndrome include:

-Facial features such as a small upturned nose, a wide mouth with downturned corners, and a high-arched palate
-Malformed or webbed fingers and toes (syndactyly)
-Hearing loss
-Cleft palate
-Heart defects
-Respiratory problems
-Delayed development
-Muscle weakness
-Joint contractures
-Scoliosis
-Feeding difficulties
-Growth delays

Freeman Sheldon Syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the protein filamin A. This mutation affects the development of the bones and muscles, leading to the characteristic facial features and skeletal abnormalities associated with the syndrome. There is no known cause for the mutation, but it is believed to be inherited in an autosomal dominant pattern.

The treatments for Freeman Sheldon Syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help with pain and muscle spasms. In some cases, surgery may be necessary to correct skeletal deformities. Additionally, braces, splints, and other assistive devices may be used to help with mobility.

The exact cause of Freeman Sheldon Syndrome is unknown, but it is believed to be a genetic disorder. Risk factors for Freeman Sheldon Syndrome include:

1. Family history of the disorder
2. Being female
3. Being of Caucasian descent
4. Having a mutation in the MYH3 gene
5. Having a mutation in the MYH8 gene
6. Having a mutation in the MYH9 gene
7. Having a mutation in the MYH10 gene
8. Having a mutation in the MYH11 gene
9. Having a mutation in the MYH12 gene
10. Having a mutation in the MYH13 gene

At this time, there is no cure for Freeman Sheldon Syndrome. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help with pain, muscle spasms, and other symptoms.