Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder characterized by macrocephaly (an abnormally large head), lipomas (benign fatty tumors), and intestinal hamartomatous polyps. It is caused by a mutation in the PTEN gene, which is responsible for controlling cell growth and division. Other symptoms may include developmental delays, intellectual disability, seizures, and autism spectrum disorder.

The most common symptoms of Bannayan-Riley-Ruvalcaba syndrome (BRRS) include:

-Large head size (macrocephaly)

-Developmental delay

-Mild to moderate intellectual disability

-Seizures

-Growth delays

-Facial features such as a broad forehead, wide-set eyes, and a small chin

-Skin abnormalities such as cafe-au-lait spots, freckles, and moles

-Abnormalities of the hands and feet, such as extra fingers or toes (polydactyly)

-Abnormalities of the genitals

-Kidney abnormalities

-Gastrointestinal problems such as constipation and reflux

-Behavioral problems such as hyperactivity and impuls

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder caused by a mutation in the PTEN gene. This gene is responsible for controlling cell growth and division. The mutation in the PTEN gene leads to an overgrowth of cells in certain areas of the body, resulting in the physical and developmental features of BRRS.

There is no cure for Bannayan-Riley-Ruvalcaba syndrome, but treatments can help manage the symptoms. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to help with seizures, muscle spasms, and other symptoms. Surgery may be recommended to correct physical deformities or to help with bladder control. Genetic counseling may also be recommended.

1. Family history: Bannayan-Riley-Ruvalcaba syndrome is an inherited disorder, so having a family history of the condition increases the risk of developing it.

2. Gender: Bannayan-Riley-Ruvalcaba syndrome is more common in males than females.

3. Age: The condition is usually diagnosed in childhood or adolescence.

There is no cure for Bannayan-Riley-Ruvalcaba syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage seizures, gastrointestinal issues, and other symptoms. Physical and occupational therapy may also be recommended to help with motor skills and coordination.