Rubinstein-Taybi syndrome (RTS) is a genetic disorder caused by mutations in the CREBBP gene. It is characterized by physical abnormalities, intellectual disability, and behavioral problems. Common physical features include short stature, broad thumbs and toes, and facial abnormalities. People with RTS may also have heart defects, kidney problems, and other health issues. Treatment typically includes physical, occupational, and speech therapy, as well as medications to manage behavior and other symptoms.

The most common symptoms of Rubinstein-Taybi syndrome due to CREBBP mutations include:

-Delayed development
-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
-Narrow hands and feet
-Heart defects
-Hearing loss
-Seizures
-Feeding difficulties
-Skeletal abnormalities
-Kidney abnormalities
-Behavioral problems
-Speech delays

Rubinstein-Taybi syndrome (RTS) is caused by mutations in the CREBBP gene, which is responsible for producing the CREB-binding protein (CBP). This protein is involved in the regulation of gene expression and is essential for normal development. Mutations in the CREBBP gene can lead to a variety of physical and cognitive abnormalities, including intellectual disability, distinctive facial features, and broad thumbs and toes. The exact cause of these mutations is unknown, but they are thought to be due to a combination of genetic and environmental factors.

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.

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

4. Behavioral therapy: Behavioral therapy can help with social skills, self-care, and problem-solving.

5. Medications: Medications can help with seizures, anxiety, and other behavioral issues.

6. Surgery: Surgery may be necessary to correct physical deformities or to treat certain medical conditions.

7. Genetic counseling: Genetic counseling can help families understand the condition and its implications.

1. Family history of Rubinstein-Taybi syndrome
2. Maternal age over 35
3. Exposure to certain environmental toxins
4. Exposure to certain medications during pregnancy
5. Advanced paternal age
6. Genetic mutations in the CREBBP gene

At this time, there is no cure for Rubinstein-Taybi syndrome due to CREBBP mutations. However, there are medications and therapies that can help manage the symptoms of the condition. These include medications to help with seizures, physical and occupational therapy to help with motor skills, speech therapy to help with communication, and behavioral therapy to help with social skills. Additionally, there are a number of supportive treatments that can help improve quality of life, such as dietary modifications, orthopedic supports, and assistive technology.