Overview
Witteveen-Kolk syndrome (also sometimes abbreviated as WITKOS) is a rare genetic condition caused by changes in the SIN3A gene. This gene plays an important role in how other genes are switched on and off in the body, especially in the developing brain. When SIN3A does not work properly, it can affect brain development and lead to a range of intellectual and physical challenges. The most common features of Witteveen-Kolk syndrome include intellectual disability (ranging from mild to moderate), delayed development of speech and language, and behavioral differences such as autism-like traits, anxiety, or attention difficulties. Many people with this condition also have subtle differences in their facial features, and some may have mild differences in the structure of the brain visible on MRI scans. Feeding difficulties in infancy and low muscle tone (hypotonia) are also reported in some individuals. There is currently no cure for Witteveen-Kolk syndrome. Treatment focuses on supporting development through speech therapy, occupational therapy, physical therapy, and educational support. Behavioral and psychiatric symptoms can often be managed with appropriate therapies and, in some cases, medications. With the right support, many individuals with this condition can make meaningful progress and lead fulfilling lives. Because the condition was only formally described in recent years, research is still growing and our understanding continues to improve.
Also known as:
Key symptoms:
Intellectual disability (mild to moderate)Delayed speech and language developmentLow muscle tone (hypotonia) in infancyAutism-like behaviors or traitsAnxiety or emotional difficultiesAttention deficit or hyperactivityFeeding difficulties in early childhoodSubtle differences in facial featuresDelayed walking or motor milestonesBrain structural differences seen on MRI in some individualsBehavioral challenges such as repetitive behaviorsSleep difficulties
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
Treatments
No FDA-approved treatments are currently listed for Witteveen-Kolk syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Witteveen-Kolk syndrome at this time.
New trials open frequently. Follow this disease to get notified.
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 Witteveen-Kolk syndrome.
Community
No community posts yet. Be the first to share your experience with Witteveen-Kolk syndrome.
Start the conversation →Latest news about Witteveen-Kolk syndrome
No recent news articles for Witteveen-Kolk 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 genetic testing do you recommend to confirm the diagnosis, and should other family members be tested?,What therapies should we start right away, and how do we access early intervention services?,What developmental milestones should we watch for, and when should we be concerned?,Are there any behavioral or psychiatric symptoms we should watch for as our child grows older?,What educational supports or accommodations are typically recommended for children with this condition?,Are there any clinical trials or research studies we could participate in?,What does the long-term outlook look like, and what support might be needed in adulthood?
Common questions about Witteveen-Kolk syndrome
What is Witteveen-Kolk syndrome?
Witteveen-Kolk syndrome (also sometimes abbreviated as WITKOS) is a rare genetic condition caused by changes in the SIN3A gene. This gene plays an important role in how other genes are switched on and off in the body, especially in the developing brain. When SIN3A does not work properly, it can affect brain development and lead to a range of intellectual and physical challenges. The most common features of Witteveen-Kolk syndrome include intellectual disability (ranging from mild to moderate), delayed development of speech and language, and behavioral differences such as autism-like traits, a
How is Witteveen-Kolk syndrome inherited?
Witteveen-Kolk syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Witteveen-Kolk syndrome typically begin?
Typical onset of Witteveen-Kolk syndrome is infantile. Age of onset can vary across affected individuals.
Which specialists treat Witteveen-Kolk syndrome?
15 specialists and care centers treating Witteveen-Kolk syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.