Berk–Tabatznik syndrome
Berk–Tabatznik syndrome is a rare genetic disorder characterized by short stature, intellectual disability, and distinctive facial features. The syndrome was first described by Dr. Berk and Dr. Tabatznik in 1984.
Symptoms and Signs[edit | edit source]
The most common symptoms of Berk–Tabatznik syndrome include:
- Short stature
- Intellectual disability
- Distinctive facial features such as a broad forehead, deep-set eyes, and a small chin
- Other physical abnormalities may also be present
Causes[edit | edit source]
Berk–Tabatznik syndrome is a genetic disorder, which means it is caused by changes (mutations) in one or more genes. However, the specific genes involved in this syndrome are not yet known.
Diagnosis[edit | edit source]
Diagnosis of Berk–Tabatznik syndrome is based on the presence of characteristic clinical features. Genetic testing may also be used to confirm the diagnosis.
Treatment[edit | edit source]
There is currently no cure for Berk–Tabatznik syndrome. Treatment is supportive and based on the symptoms present in each individual.
See Also[edit | edit source]
References[edit | edit source]
Berk–Tabatznik syndrome Resources | |
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Contributors: Prab R. Tumpati, MD