Overview
Rubinstein-Taybi syndrome due to CREBBP mutations (sometimes called RSTS1 or RTS type 1) is a rare genetic condition caused by changes in the CREBBP gene, which provides instructions for making a protein important for normal development. This protein helps control the activity of many other genes, so when it does not work properly, it affects multiple parts of the body. People with this condition typically have distinctive facial features, including downward-slanting eyes, a beaked nose, and a grimacing smile. One of the hallmark signs is broad thumbs and big toes, which may be angled or duplicated. Most individuals have some degree of intellectual disability, ranging from mild to moderate, along with delayed speech and motor development. Growth is often slower than average, leading to short stature. Other common features include feeding difficulties in infancy, constipation, heart defects, eye problems, and an increased risk of certain tumors. Behavioral challenges such as anxiety, attention difficulties, and repetitive behaviors may also occur. There is currently no cure for Rubinstein-Taybi syndrome. Treatment focuses on managing individual symptoms through therapies, surgeries when needed, and supportive care. Early intervention with speech therapy, occupational therapy, and physical therapy can significantly improve outcomes and quality of life. Regular monitoring by a team of specialists is essential throughout life.
Key symptoms:
Broad thumbs and big toesIntellectual disabilityShort statureDistinctive facial features including a beaked noseDownward-slanting eyesDelayed speech developmentDelayed motor milestonesFeeding difficulties in infancyConstipationHeart defects present at birthEye problems such as blocked tear ducts or crossed eyesDental crowding and abnormalitiesIncreased risk of certain tumorsBehavioral challenges including anxiety and attention problemsExcessive hair growth on the body
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Rubinstein-Taybi syndrome due to CREBBP mutations.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Rubinstein-Taybi syndrome due to CREBBP mutations.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Rubinstein-Taybi syndrome due to CREBBP mutations.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific CREBBP mutation does my child have, and does it affect the expected severity of symptoms?,What screening tests are recommended for heart defects and tumors, and how often should they be done?,What early intervention therapies should we start, and how do we access them?,Are there any special precautions we need to take regarding anesthesia and surgery?,What should we watch for as warning signs of complications that need urgent attention?,How will this condition affect my child's learning, and what school supports should we request?,Are there clinical trials or new research studies that my child might be eligible for?
Common questions about Rubinstein-Taybi syndrome due to CREBBP mutations
What is Rubinstein-Taybi syndrome due to CREBBP mutations?
Rubinstein-Taybi syndrome due to CREBBP mutations (sometimes called RSTS1 or RTS type 1) is a rare genetic condition caused by changes in the CREBBP gene, which provides instructions for making a protein important for normal development. This protein helps control the activity of many other genes, so when it does not work properly, it affects multiple parts of the body. People with this condition typically have distinctive facial features, including downward-slanting eyes, a beaked nose, and a grimacing smile. One of the hallmark signs is broad thumbs and big toes, which may be angled or dupl
How is Rubinstein-Taybi syndrome due to CREBBP mutations inherited?
Rubinstein-Taybi syndrome due to CREBBP mutations follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Rubinstein-Taybi syndrome due to CREBBP mutations typically begin?
Typical onset of Rubinstein-Taybi syndrome due to CREBBP mutations is neonatal. Age of onset can vary across affected individuals.