Overview
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (sometimes called RTS or RSTS) is a rare genetic condition caused by a tiny missing piece of chromosome 16 in a region called 16p13.3. This deleted region typically includes the CREBBP gene, which plays an important role in how the body develops before and after birth. The syndrome affects multiple parts of the body and is usually recognized at birth or in early infancy. Children 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 also be angled. Most individuals have some degree of intellectual disability, ranging from mild to moderate, along with delayed growth and short stature. Many children also experience feeding difficulties in infancy and may have heart defects, kidney problems, or eye issues. There is currently no cure for Rubinstein-Taybi syndrome. Treatment focuses on managing individual symptoms and supporting development through early intervention programs, speech therapy, occupational therapy, and physical therapy. Regular monitoring by a team of specialists is essential to address the wide range of potential medical issues. With appropriate support, many individuals with this condition can lead fulfilling lives, though they typically need some level of ongoing assistance.
Key symptoms:
Broad thumbs and big toesIntellectual disabilityShort statureDistinctive facial features including a beaked noseDownward-slanting eyesFeeding difficulties in infancyDelayed speech and language developmentDelayed motor milestones like sitting and walkingHeart defects present at birthEye problems such as crossed eyes or blocked tear ductsKidney abnormalitiesConstipationDental crowding or extra teethIncreased risk of certain tumorsUndescended testicles in boys
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 16p13.3 microdeletion.
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Specialists
View all specialists →No specialists are currently listed for Rubinstein-Taybi syndrome due to 16p13.3 microdeletion.
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 16p13.3 microdeletion.
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 medical screenings does my child need and how often?,Are there any heart or kidney problems that need to be addressed right away?,What early intervention therapies should we start, and how do we access them?,What precautions should we take regarding anesthesia and surgery?,How should we monitor for tumor risk as my child grows?,What educational supports and accommodations should we request at school?,Are there any clinical trials or new research studies we should know about?
Common questions about Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
What is Rubinstein-Taybi syndrome due to 16p13.3 microdeletion?
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (sometimes called RTS or RSTS) is a rare genetic condition caused by a tiny missing piece of chromosome 16 in a region called 16p13.3. This deleted region typically includes the CREBBP gene, which plays an important role in how the body develops before and after birth. The syndrome affects multiple parts of the body and is usually recognized at birth or in early infancy. Children with this condition typically have distinctive facial features, including downward-slanting eyes, a beaked nose, and a grimacing smile. One of the hallmark signs
How is Rubinstein-Taybi syndrome due to 16p13.3 microdeletion inherited?
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 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 16p13.3 microdeletion typically begin?
Typical onset of Rubinstein-Taybi syndrome due to 16p13.3 microdeletion is neonatal. Age of onset can vary across affected individuals.