Freeman-Sheldon Syndrome: A Rare Congenital Disorder
Understanding WEB Freeman-Sheldon Syndrome
WEB Freeman-Sheldon Syndrome (FSS), also known as Freeman-Burian syndrome or whistling face syndrome, is an exceptionally rare congenital disorder characterized by distinctive facial features and multiple joint contractures. It is the most severe form of distal arthrogryposis (DA), a group of conditions that affect joint mobility.Symptoms of FSS
FSS manifests with a range of symptoms that are present from birth. These include:
- Abnormally flexed joints (contractures) in the hands, feet, knees, and elbows
- Cleft lip and/or palate
- Micrognathia (small jaw)
- Ocular hypertelorism (widely spaced eyes)
- Sloping forehead
- Prominent ears
Inheritance and Genetics of FSS
FSS is inherited in an autosomal dominant pattern, which means that inheriting only one copy of the affected gene is sufficient to cause the disorder. The gene responsible for FSS is called CHRNG, which encodes a subunit of a muscle nicotinic acetylcholine receptor. Mutations in this gene disrupt the function of these receptors, leading to muscle weakness and contractures.
Diagnosis and Treatment of FSS
Diagnosing FSS involves a physical examination and a review of family history. Genetic testing can confirm the diagnosis. There is currently no cure for FSS, but treatment focuses on managing the symptoms. This may include physical therapy to improve joint mobility, surgery to correct contractures, and speech therapy to address speech difficulties.
Prognosis and Quality of Life
The prognosis for individuals with FSS varies depending on the severity of their symptoms. With appropriate management, many affected individuals can lead fulfilling lives. However, some may experience significant physical and developmental challenges.
Komentar