Overview
White-Sutton syndrome is a rare genetic condition caused by changes (mutations) in the POGZ gene. It is also sometimes called POGZ-related intellectual disability. This syndrome affects multiple body systems, but its most noticeable effects are on brain development and behavior. Children with White-Sutton syndrome typically have intellectual disability that ranges from mild to severe, along with delayed speech and language skills. Many children also show features of autism spectrum disorder, including difficulties with social interaction and repetitive behaviors. Beyond developmental and behavioral concerns, White-Sutton syndrome can cause distinctive facial features, vision problems (such as strabismus or nearsightedness), feeding difficulties in infancy, and sometimes abnormalities of the hands or feet. Some individuals may also experience seizures, sleep disturbances, or problems with the kidneys or heart, though these are less common. Growth may be affected, with some children being shorter or taller than expected. There is currently no cure for White-Sutton syndrome. Treatment focuses on managing individual symptoms and supporting development. This typically includes speech therapy, occupational therapy, physical therapy, behavioral support, and special education services. Early intervention programs can make a meaningful difference in a child's progress. Regular monitoring by a team of specialists helps ensure that any new medical issues, such as vision changes or seizures, are caught and treated promptly.
Key symptoms:
Intellectual disability (mild to severe)Delayed speech and language developmentAutism spectrum features or social difficultiesDistinctive facial featuresCrossed eyes (strabismus) or other vision problemsFeeding difficulties in infancyLow muscle tone (feeling floppy as a baby)Delayed motor milestones like sitting and walkingSleep problemsSeizuresBehavioral challenges such as anxiety or attention difficultiesShort stature or abnormal growthAbnormalities of the hands or feetKidney or urinary tract problemsHeart defects (in some cases)
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
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
1 eventCentre Hospitalier Universitaire Dijon
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for White-Sutton syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for White-Sutton 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 White-Sutton syndrome.
Community
No community posts yet. Be the first to share your experience with White-Sutton syndrome.
Start the conversation →Latest news about White-Sutton syndrome
No recent news articles for White-Sutton syndrome.
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.What specific POGZ gene change does my child have, and what does it mean for their health?,What therapies should we start right away, and how often should they occur?,Should my child be screened for heart, kidney, or vision problems?,What is the chance of having another child with this condition?,Are there any clinical trials or research studies we could participate in?,What educational supports and accommodations should we request at school?,How should we monitor for seizures, and what should we do if one occurs?
Common questions about White-Sutton syndrome
What is White-Sutton syndrome?
White-Sutton syndrome is a rare genetic condition caused by changes (mutations) in the POGZ gene. It is also sometimes called POGZ-related intellectual disability. This syndrome affects multiple body systems, but its most noticeable effects are on brain development and behavior. Children with White-Sutton syndrome typically have intellectual disability that ranges from mild to severe, along with delayed speech and language skills. Many children also show features of autism spectrum disorder, including difficulties with social interaction and repetitive behaviors. Beyond developmental and beha
How is White-Sutton syndrome inherited?
White-Sutton syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does White-Sutton syndrome typically begin?
Typical onset of White-Sutton syndrome is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for White-Sutton syndrome?
Yes — 1 recruiting clinical trial is currently listed for White-Sutton syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.