Overview
Pierpont syndrome is a very rare genetic condition that affects brain development, physical growth, and the way the body looks. It is sometimes called TBL1XR1-related intellectual disability. The condition is caused by a change (mutation) in a gene called TBL1XR1, which plays an important role in how genes are switched on and off in the body, especially in the developing brain. People with Pierpont syndrome typically have intellectual disability, which means they may have difficulty learning, communicating, and reaching developmental milestones like walking and talking. Many also have distinctive facial features, such as a broad forehead, widely spaced eyes, a flat nasal bridge, and full lips. Unusual fat distribution — particularly fleshy, thickened fingertips and toes — is a hallmark feature that helps doctors recognize this condition. Some individuals also experience behavioral challenges, seizures, and problems with muscle tone. There is currently no cure for Pierpont syndrome. Treatment focuses on managing symptoms and supporting development through therapies such as speech therapy, physical therapy, occupational therapy, and special education programs. With the right support, many individuals can make meaningful progress in their daily skills and quality of life.
Also known as:
Key symptoms:
Intellectual disability (difficulty learning and thinking)Delayed speech and language developmentDelayed walking and motor milestonesLow muscle tone (floppiness, especially in infancy)Distinctive facial features (broad forehead, widely spaced eyes, flat nose bridge, full lips)Unusually fleshy or thickened fingertips and toesAbnormal fat distribution under the skinBehavioral challenges (such as anxiety, repetitive behaviors, or autistic-like features)Seizures in some individualsShort statureFeeding difficulties in infancyHearing problems in some individualsVision problems in some individuals
Clinical phenotype terms (48)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Pierpont syndrome.
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View all trials with filters →No actively recruiting trials found for Pierpont syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Pierpont syndrome.
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 Pierpont syndrome.
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 genetic testing do you recommend to confirm the diagnosis, and should my other children or family members be tested?,What therapies should we start right away, and how often should my child receive them?,Does my child need brain imaging, hearing tests, or vision tests?,What signs of seizures should I watch for, and what should I do if one happens?,Are there any clinical trials or research studies we could participate in?,What kind of educational support will my child need, and how do I get an IEP started?,What does the future look like for my child in terms of independence and quality of life?
Common questions about Pierpont syndrome
What is Pierpont syndrome?
Pierpont syndrome is a very rare genetic condition that affects brain development, physical growth, and the way the body looks. It is sometimes called TBL1XR1-related intellectual disability. The condition is caused by a change (mutation) in a gene called TBL1XR1, which plays an important role in how genes are switched on and off in the body, especially in the developing brain. People with Pierpont syndrome typically have intellectual disability, which means they may have difficulty learning, communicating, and reaching developmental milestones like walking and talking. Many also have distinc
How is Pierpont syndrome inherited?
Pierpont syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pierpont syndrome typically begin?
Typical onset of Pierpont syndrome is infantile. Age of onset can vary across affected individuals.