Berk–Tabatznik syndrome

From WikiMD's Wellness Encyclopedia

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