Bhaskar–Jagannathan syndrome
Bhaskar–Jagannathan syndrome is a rare genetic disorder characterized by intellectual disability, microcephaly, short stature, and distinctive facial features. The syndrome was first described by Dr. Bhaskar and Dr. Jagannathan in 2016.
Symptoms and Signs[edit | edit source]
The most common symptoms of Bhaskar–Jagannathan syndrome include:
- Intellectual disability
- Microcephaly (small head size)
- Short stature
- Distinctive facial features such as a broad forehead, deep-set eyes, and a small chin
Other symptoms may include seizures, developmental delay, and behavioral problems.
Causes[edit | edit source]
Bhaskar–Jagannathan syndrome is caused by mutations in the gene known as ZNF335. This gene provides instructions for making a protein that is involved in the development of the brain and nervous system.
Diagnosis[edit | edit source]
Diagnosis of Bhaskar–Jagannathan syndrome is based on the presence of characteristic symptoms and signs. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
There is currently no cure for Bhaskar–Jagannathan syndrome. Treatment is supportive and based on the symptoms present in each individual.
See Also[edit | edit source]
References[edit | edit source]
Bhaskar–Jagannathan syndrome Resources | ||
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