Rubinstein-Taybi Syndrome (RTS) is a genetic disorder caused by a mutation in the CREBBP gene. This gene is responsible for the production of a protein called CREB-binding protein, which is involved in the regulation of gene expression. The mutation in the CREBBP gene results in the abnormal production of this protein, which can lead to the physical and cognitive features associated with RTS.

The most common symptoms of Rubinstein-Taybi Syndrome 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

-Broad thumbs and big toes

-Short stature

-Heart defects

-Scoliosis

-Hearing loss

-Seizures

-Behavioral problems

-Feeding difficulties

-Kidney abnormalities

-Cleft palate

-Eye abnormalities

The cause of Rubinstein-Taybi Syndrome is a mutation in either the CREBBP or EP300 gene. These genes provide instructions for making proteins that are involved in the regulation of other genes. Mutations in either of these genes can lead to the development of Rubinstein-Taybi Syndrome.

1. Physical therapy: Physical therapy can help improve muscle strength, coordination, and balance.

2. Occupational therapy: Occupational therapy can help improve fine motor skills, such as writing and drawing, as well as activities of daily living, such as dressing and eating.

3. Speech therapy: Speech therapy can help improve communication skills.

4. Behavioral therapy: Behavioral therapy can help with social skills, problem-solving, and managing challenging behaviors.

5. Medications: Medications can help manage seizures, anxiety, and other symptoms.

6. Surgery: Surgery may be recommended to correct physical deformities or to improve breathing.

1. Mutation in the CREBBP gene: This gene is responsible for the production of a protein that helps regulate the activity of other genes. Mutations in this gene can lead to Rubinstein-Taybi Syndrome.

2. Parental age: Advanced parental age is associated with an increased risk of having a child with Rubinstein-Taybi Syndrome.

3. Family history: Having a family history of Rubinstein-Taybi Syndrome increases the risk of having a child with the condition.

4. Chromosomal abnormalities: Certain chromosomal abnormalities, such as deletions or duplications of genetic material, can increase the risk of Rubinstein-Taybi Syndrome.

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.