Overview
Koolen-De Vries syndrome (KdVS) due to a point mutation is a rare genetic condition caused by a change in the KANSL1 gene. This form of the syndrome produces the same features as the more common deletion form but is caused by a small spelling mistake (point mutation) in the gene rather than a missing piece of chromosome 17. The condition affects many parts of the body and is typically recognized in early childhood. Children with this condition usually have developmental delay, meaning they are slower to reach milestones like sitting, walking, and talking. Intellectual disability ranges from mild to moderate. Many children have a friendly and cooperative personality, which is considered a hallmark behavioral feature. Facial features may include a long face, upslanting eyes, a pear-shaped nose with a bulbous tip, and prominent ears. Low muscle tone (hypotonia) is very common in infancy and can cause feeding difficulties. Some children are born with heart defects, kidney problems, or epilepsy. There is currently no cure for Koolen-De Vries syndrome. Treatment focuses on managing individual symptoms through therapies such as speech therapy, physical therapy, occupational therapy, and special education support. Heart defects or other structural problems may require surgical correction. With appropriate support, many individuals make steady developmental progress throughout childhood and into adulthood.
Key symptoms:
Developmental delay in walking and talkingMild to moderate intellectual disabilityLow muscle tone (floppy baby)Friendly and sociable personalityLong face with distinctive facial featuresPear-shaped or bulbous nose tipFeeding difficulties in infancySeizures or epilepsyHeart defects present at birthKidney or urinary tract abnormalitiesJoint hypermobility (very flexible joints)Speech and language delaysVision problems such as lazy eye or farsightednessHearing difficultiesBehavioral challenges including anxiety
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 Koolen-De Vries syndrome due to a point mutation.
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Specialists
View all specialists →No specialists are currently listed for Koolen-De Vries syndrome due to a point mutation.
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 Koolen-De Vries syndrome due to a point mutation.
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 KANSL1 mutation does my child have, and does it affect prognosis?,What therapies should we start right away, and how often should they occur?,Does my child need a heart ultrasound, kidney ultrasound, or brain MRI?,Should we test for seizure activity even if we haven't noticed any episodes?,What educational supports and accommodations should we request at school?,Is there a risk that future children could also have this condition?,Are there any clinical trials or research studies we should know about?
Common questions about Koolen-De Vries syndrome due to a point mutation
What is Koolen-De Vries syndrome due to a point mutation?
Koolen-De Vries syndrome (KdVS) due to a point mutation is a rare genetic condition caused by a change in the KANSL1 gene. This form of the syndrome produces the same features as the more common deletion form but is caused by a small spelling mistake (point mutation) in the gene rather than a missing piece of chromosome 17. The condition affects many parts of the body and is typically recognized in early childhood. Children with this condition usually have developmental delay, meaning they are slower to reach milestones like sitting, walking, and talking. Intellectual disability ranges from m
How is Koolen-De Vries syndrome due to a point mutation inherited?
Koolen-De Vries syndrome due to a point mutation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Koolen-De Vries syndrome due to a point mutation typically begin?
Typical onset of Koolen-De Vries syndrome due to a point mutation is neonatal. Age of onset can vary across affected individuals.