Freeman-Sheldon Syndrome: An Overview
What is Freeman-Sheldon Syndrome (FSS)?
Freeman-Sheldon syndrome (FSS) is an exceptionally rare genetic disorder that primarily affects the muscles in the face and skull (craniofacial). It is also known as Freeman-Burian syndrome, "whistling face syndrome," or "the skeletal type of craniofacial microsomia."
Symptoms
The characteristic features of FSS include:
- Prominent and "whistling" lips
- Underdeveloped jaw
- Small mouth and teeth
- Limited mouth opening
- Facial asymmetry
- Ears with folded or underdeveloped cartilage
- Short stature
- Muscle weakness
- Joint stiffness
- Delayed motor development
Causes and Inheritance
FSS is mostly caused by mutations in the gene "MYH3," which provides instructions for making a protein essential for muscle function. Most cases are inherited in an autosomal dominant manner, meaning that the affected individual receives only one copy of the mutated gene from a parent who carries the same mutation.
However, FSS can also occur as a spontaneous mutation (de novo mutation), with no family history of the disorder.
Diagnosis and Treatment
Diagnosis of FSS is based on clinical examination and imaging studies. There is currently no cure for FSS, and treatment focuses on managing the symptoms and improving quality of life.
Treatment may involve:
- Surgical procedures to correct facial deformities
- Speech therapy to improve communication
- Physical therapy to enhance mobility
- Occupational therapy to promote independence in daily activities
- Genetic counseling to provide information about the inheritance pattern and recurrence risk
Outlook
The severity of FSS varies among individuals. Some people have only mild symptoms, while others may experience more severe facial deformities and functional limitations.
With appropriate management, individuals with FSS can live full and meaningful lives.
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