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Freeman-Sheldon Syndrome: Symptoms, Causes, and Treatments
What is Freeman-Sheldon Syndrome?
Freeman-Sheldon syndrome (FSS) is a rare inherited form of distal arthrogryposis. It is characterized by microstomia (small mouth), whistling-face appearance, and joint contractures. FSS is caused by mutations in the CHRNG gene, which encodes the alpha subunit of the nicotinic acetylcholine receptor.
Symptoms of Freeman-Sheldon Syndrome
The symptoms of FSS are present from birth. They include:
- Microstomia (small mouth)
- Whistling-face appearance
- Joint contractures
- Pectus excavatum (sunken chest)
- Scoliosis (curvature of the spine)
- Hip dysplasia (abnormal development of the hip joint)
- Intellectual disability
Causes of Freeman-Sheldon Syndrome
FSS is caused by mutations in the CHRNG gene. This gene encodes the alpha subunit of the nicotinic acetylcholine receptor. The nicotinic acetylcholine receptor is a protein that is found in the neuromuscular junction. It is responsible for transmitting signals from nerves to muscles.
Treatments for Freeman-Sheldon Syndrome
There is no cure for FSS. Treatment is supportive and focuses on managing the symptoms of the condition. Treatment may include:
- Surgery to correct joint contractures
- Physical therapy to improve range of motion
- Occupational therapy to help with activities of daily living
- Speech therapy to help with speech and language development
- Special education to help with intellectual disability
Prognosis for Freeman-Sheldon Syndrome
The prognosis for FSS varies depending on the severity of the symptoms. Individuals with mild symptoms may have a normal life expectancy and live independently. Individuals with severe symptoms may have a shortened life expectancy and require significant medical care.
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