Bhaskar–Jagannathan syndrome

Bhaskar–Jagannathan syndrome
Synonyms	BJS
Pronounce	N/A
Specialty	Medical genetics
Symptoms	Intellectual disability, developmental delay, seizures, hypotonia, microcephaly, dysmorphic features
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Other genetic syndromes
Prevention	N/A
Treatment	Supportive care, symptomatic treatment
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

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

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

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

Diagnosis of Bhaskar–Jagannathan syndrome is based on the presence of characteristic symptoms and signs. Genetic testing can confirm the diagnosis.

Treatment

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

See Also

• Genetic disorder
• Intellectual disability
• Microcephaly
• Short stature