Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder that affects many parts of the body. It is characterized by physical abnormalities, intellectual disability, and behavioral problems. Common physical features include a distinctive facial appearance, short stature, broad thumbs and first toes, and heart defects. Other features may include skeletal abnormalities, kidney problems, and vision and hearing problems.

The most common symptoms of Rubinstein-Taybi Syndrome (RTS) include:

-Delayed development of motor skills and speech

-Intellectual disability

-Distinctive facial features, including a broad forehead, down-slanting eyes, a beaked nose, and full lips

-Short stature

-Broad thumbs and first toes

-Heart defects

-Scoliosis

-Hearing loss

-Seizures

-Behavioral problems

-Feeding difficulties

-Kidney abnormalities

-Cleft palate

-Urogenital abnormalities

Rubinstein Taybi Syndrome (RTS) is a rare genetic disorder caused by a mutation in the CREBBP gene. This gene is responsible for producing a protein that helps regulate the activity of other genes. The mutation in the CREBBP gene disrupts the normal development of many parts of the body, leading to the physical and mental features of RTS.

The treatments for Rubinstein Taybi Syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the physical, cognitive, and behavioral symptoms associated with the syndrome. This may include physical therapy, occupational therapy, speech therapy, and behavior therapy. Medications may also be prescribed to help manage any associated medical conditions, such as seizures, sleep disturbances, and gastrointestinal issues. Additionally, surgery may be recommended to correct any physical deformities or abnormalities.

1. Advanced maternal age
2. Family history of Rubinstein Taybi Syndrome
3. Genetic mutations in the CREBBP gene
4. Exposure to certain environmental toxins during pregnancy
5. Low birth weight

There is no cure for Rubinstein-Taybi Syndrome, but there are medications and therapies that can help manage the symptoms. These include medications to help with seizures, physical therapy to help with motor skills, occupational therapy to help with daily activities, speech therapy to help with communication, and behavioral therapy to help with social skills.