Berk-Tabatznik syndrome
Berk-Tabatznik Syndrome
Berk-Tabatznik Syndrome (pronounced: berk-tuh-bahts-nik sin-drohm), also known as Distal Arthrogryposis Type 8, is a rare genetic disorder characterized by joint contractures, facial abnormalities, and growth retardation.
Etymology
The syndrome is named after the two doctors, Dr. Berk and Dr. Tabatznik, who first described the condition in the medical literature. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms" or "running together".
Symptoms
The primary symptoms of Berk-Tabatznik Syndrome include:
- Joint contractures: This refers to the permanent shortening of a muscle or joint. In the case of Berk-Tabatznik Syndrome, this primarily affects the hands and feet.
- Facial abnormalities: These can include a small mouth, a high-arched palate, and a small jaw.
- Growth retardation: Individuals with Berk-Tabatznik Syndrome often experience slower than normal growth.
Diagnosis
Diagnosis of Berk-Tabatznik Syndrome is typically based on the presence of characteristic symptoms and a detailed patient history. A diagnosis may be confirmed through genetic testing, as the syndrome is caused by mutations in the MYH3 gene.
Treatment
Treatment for Berk-Tabatznik Syndrome is symptomatic and supportive. Physical therapy and other forms of rehabilitative therapy may be beneficial for managing joint contractures. Surgery may be necessary in some cases to correct severe joint deformities.
Prognosis
The prognosis for individuals with Berk-Tabatznik Syndrome varies. The severity of symptoms can range from mild to severe, and the syndrome can affect individuals differently. However, with appropriate treatment and management, individuals with Berk-Tabatznik Syndrome can lead fulfilling lives.
See Also
External links
- Medical encyclopedia article on Berk-Tabatznik syndrome
- Wikipedia's article - Berk-Tabatznik syndrome
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