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

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

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

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

There is currently no cure for Berk–Tabatznik syndrome. Treatment is supportive and based on the symptoms present in each individual.

See Also

• Genetic disorder
• Short stature
• Intellectual disability

References

Berk–Tabatznik syndrome Resources
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