Ruvalcaba Syndrome is a rare genetic disorder characterized by intellectual disability, growth delays, and distinctive facial features. It is caused by a mutation in the SMARCB1 gene. Symptoms can include delayed development, low muscle tone, seizures, and heart defects.

The most common symptoms of Ruvalcaba Syndrome include:

-Delayed development
-Intellectual disability
-Seizures
-Growth retardation
-Facial dysmorphism (abnormal facial features)
-Abnormalities of the hands and feet
-Abnormalities of the heart and other organs
-Abnormalities of the eyes
-Abnormalities of the skeleton
-Abnormalities of the urinary tract
-Abnormalities of the nervous system
-Behavioral problems

Ruvalcaba Syndrome is caused by a mutation in the SMARCB1 gene. This gene is responsible for producing a protein that helps regulate cell growth and division. Mutations in this gene can lead to the development of Ruvalcaba Syndrome.

Currently, there is no known cure for Ruvalcaba Syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to help control seizures. Surgery may be recommended to correct physical deformities or to help improve mobility. Genetic counseling may also be recommended to help families understand the condition and its implications.

The exact cause of Ruvalcaba Syndrome is unknown, but it is believed to be caused by a genetic mutation. Risk factors for Ruvalcaba Syndrome include a family history of the disorder, being of Mexican descent, and being a male.

At this time, there is no cure for Ruvalcaba Syndrome. However, medications may be prescribed to help manage the symptoms. These may include medications to help with seizures, muscle spasms, and other neurological symptoms. Additionally, physical and occupational therapy may be recommended to help with motor skills and coordination.