Larsen syndrome
Larsen Syndrome
Larsen syndrome (pronounced: lar-sen sin-drome) is a rare genetic disorder characterized by multiple joint dislocations and distinctive facial features. The term "Larsen" is derived from the name of the physician who first described the condition in 1950, Dr. Loren J. Larsen.
Definition
Larsen syndrome is a congenital disorder, meaning it is present from birth. It is characterized by multiple joint dislocations, including the hips, knees, and elbows. Individuals with Larsen syndrome may also have distinctive facial features such as a prominent forehead, flattened nose bridge, and wide-set eyes. Other features can include a cleft palate, heart defects, and short stature.
Symptoms
The primary symptoms of Larsen syndrome include dislocation of multiple joints, cleft palate, heart defects, and short stature. The severity of these symptoms can vary widely among affected individuals. Some people may have mild symptoms, while others may have severe physical disabilities.
Causes
Larsen syndrome is caused by mutations in the FLNB gene, which provides instructions for producing a protein that is involved in the development and maintenance of the body's connective tissue. This mutation is inherited in an autosomal dominant manner, meaning an affected person has a 50% chance of passing the disorder to each of their children.
Diagnosis
Diagnosis of Larsen syndrome is typically based on the presence of characteristic physical features. Genetic testing can confirm the diagnosis by identifying a mutation in the FLNB gene.
Treatment
Treatment for Larsen syndrome is focused on managing the symptoms and may include physical therapy, surgery to correct joint dislocations, and treatment for heart defects.
Prognosis
The prognosis for individuals with Larsen syndrome varies depending on the severity of symptoms. With appropriate treatment and management, many people with Larsen syndrome can lead productive lives.
See Also
- Genetic disorder
- Joint dislocation
- Cleft palate
- Heart defect
- Short stature
- FLNB gene
- Autosomal dominant
External links
- Medical encyclopedia article on Larsen syndrome
- Wikipedia's article - Larsen syndrome
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