Freeman-Sheldon syndrome (FSS) is a rare genetic disorder characterized by craniofacial, skeletal, and muscular abnormalities. It is also known as Windmill Vane Hand Syndrome or Distal Arthrogryposis Type 2. Symptoms of FSS include a distinctive facial appearance, joint contractures, and muscle weakness. The facial features of FSS include a small chin, pursed lips, and a whistling sound when the person breathes. Other features may include a high-arched palate, a small lower jaw, and a curved fifth finger.

The most common symptoms of Freeman-Sheldon syndrome include:

-Hands and feet that are abnormally shaped, with fingers and toes that are bent inwards (known as “clenched fists” and “hitchhiker’s thumbs”)

-A distinctive facial appearance, including a small mouth with pursed lips, a high-arched palate, and a wide-eyed expression

-Joint contractures, which cause limited movement in the elbows, wrists, and other joints

-Delayed development of motor skills, such as sitting, standing, and walking

-Scoliosis (curvature of the spine)

-Heart defects

-Hearing loss

-Intellectual disability

Freeman-Sheldon syndrome is a rare genetic disorder caused by a mutation in the MYH3 gene. This gene is responsible for producing a protein that helps form and maintain the structure of muscles. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed for a person to be affected by the disorder.

The treatments for Freeman-Sheldon syndrome vary depending on the individual and the severity of the condition. Treatment may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and/or medications to help manage pain and other symptoms. Surgery may be necessary to correct skeletal deformities, such as clubfoot or scoliosis. In some cases, surgery may be needed to correct facial deformities, such as a cleft palate. In addition, braces may be used to help correct joint contractures.

The exact cause of Freeman-Sheldon syndrome is unknown, but it is believed to be caused by a genetic mutation. Risk factors for Freeman-Sheldon syndrome include a family history of the condition, being of Caucasian descent, and being female.

There is no cure for Freeman-Sheldon syndrome, but there are medications and treatments that can help manage the symptoms. These include physical therapy, occupational therapy, orthopedic surgery, and medications to help with muscle spasms and pain.