Overview
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency is a rare genetic condition caused by changes in the EP300 gene. This is one of two main genetic causes of Rubinstein-Taybi syndrome (sometimes called RTS or broad thumb-hallux syndrome). The EP300 gene provides instructions for making a protein that helps control the activity of many other genes during development. When one copy of this gene is missing or not working properly, it can affect how the body grows and develops. People with this condition typically have distinctive facial features, including downward-slanting eyes, a beaked nose, and a small lower jaw. One of the hallmark signs is broad or angulated thumbs and big toes. Most individuals have some degree of intellectual disability, which can range from mild to moderate. Growth is often slower than expected, and many children are shorter than their peers. Some people may also have heart defects, kidney problems, or eye issues. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and supporting development. Early intervention programs, including speech therapy, occupational therapy, and physical therapy, can help children reach their full potential. Regular medical checkups are important to monitor for complications such as heart problems, hearing loss, and vision changes. With appropriate support, many individuals with EP300-related Rubinstein-Taybi syndrome can lead fulfilling lives, though they typically need some level of ongoing assistance.
Key symptoms:
Broad or angulated thumbsBroad big toesIntellectual disability (usually mild to moderate)Short statureDistinctive facial features including a beaked noseDownward-slanting eyesSmall head size (microcephaly)Delayed speech and language developmentFeeding difficulties in infancyHeart defects present at birthExcessive hair growth (hirsutism)Dental problems including crowded teethConstipationEye problems such as blocked tear ducts or refractive errorsUndescended testes in males
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 EP300 haploinsufficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency.
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 EP300 haploinsufficiency.
Community
No community posts yet. Be the first to share your experience with Rubinstein-Taybi syndrome due to EP300 haploinsufficiency.
Start the conversation →Latest news about Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
No recent news articles for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency.
Follow this condition to be notified when news becomes available.
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.How does the EP300 form of Rubinstein-Taybi syndrome differ from the CREBBP form, and what does that mean for my child?,What screening tests should be done regularly, such as heart, hearing, vision, and kidney checks?,What early intervention therapies do you recommend, and how often should they occur?,Is there an increased risk of tumors, and what surveillance should be in place?,What educational supports and accommodations should we request at school?,Are there any clinical trials or research studies we should know about?,What should we watch for as warning signs that need urgent medical attention?
Common questions about Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
What is Rubinstein-Taybi syndrome due to EP300 haploinsufficiency?
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency is a rare genetic condition caused by changes in the EP300 gene. This is one of two main genetic causes of Rubinstein-Taybi syndrome (sometimes called RTS or broad thumb-hallux syndrome). The EP300 gene provides instructions for making a protein that helps control the activity of many other genes during development. When one copy of this gene is missing or not working properly, it can affect how the body grows and develops. People with this condition typically have distinctive facial features, including downward-slanting eyes, a beaked
How is Rubinstein-Taybi syndrome due to EP300 haploinsufficiency inherited?
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 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 EP300 haploinsufficiency typically begin?
Typical onset of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency is neonatal. Age of onset can vary across affected individuals.