Living with Koolen-de Vries syndrome
A genetic condition with developmental delay, mild to moderate intellectual disability, a friendly personality, and distinctive facial features.
Understanding Koolen-de Vries syndrome
People typically have a cheerful, sociable, cooperative personality and weak muscle tone in childhood. About half have recurrent seizures. Facial features include a high, broad forehead, droopy eyelids, and a bulbous nose. Some have heart septal defects, kidney problems, or foot differences, and males often have undescended testes. It can be noticed during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Delayed speech and language
- Low muscle tone
- Seizures
- Heart differences, such as a hole between upper chambers
- Droopy eyelids and a broad forehead
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in KANSL1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Koolen-de Vries Syndrome Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the KANSL1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: chromosome 17q21.31 deletion syndrome; kansl1-related intellectual disability syndrome; kdvs; koolen de vries syndrome; microdeletion 17q21.31 syndrome
Patient organizations
- Koolen-de Vries Syndrome FoundationKoolen-de Vries syndrome · United States
- Simons SearchlightKoolen-de Vries syndrome · United States
- Chromosome Disorder OutreachKoolen-de Vries syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Koolen-de Vries syndrome.
Explore research for Koolen-de Vries syndrome
Explore actively recruiting Koolen-de Vries syndrome studies with HealthSpark.
Find actively recruiting studies for Koolen-de Vries syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Koolen-de Vries syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Koolen-de Vries syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Koolen-de Vries syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.