Overview
17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, is a rare genetic condition caused by a small missing piece (deletion) of chromosome 17. This deletion removes several genes that are important for brain development and other body functions. The syndrome was first described in 2006 and affects both males and females equally. Children with this condition typically have intellectual disability that ranges from mild to moderate, along with delayed speech and language development. Many children are described as having a friendly and cheerful personality. Common physical features include a long face, a pear-shaped or bulbous nose, and ears that are slightly different in shape or position. Low muscle tone (hypotonia) is very common in infancy and can cause feeding difficulties and delayed motor milestones like sitting and walking. Some children are born with heart defects, kidney problems, or epilepsy. There is currently no cure for 17q21.31 microdeletion syndrome. Treatment focuses on managing individual symptoms through therapies such as speech therapy, physical therapy, occupational therapy, and special education support. Early intervention programs can make a meaningful difference in a child's development. Heart defects or other organ problems may require surgical treatment. Seizures, when present, are usually managed with anti-epileptic medications. With appropriate support, many individuals with this syndrome continue to learn and develop throughout their lives.
Also known as:
Key symptoms:
Intellectual disability (mild to moderate)Delayed speech and language developmentLow muscle tone (floppy baby)Friendly and sociable personalityLong face with a bulbous or pear-shaped noseFeeding difficulties in infancyDelayed motor milestones like walkingSeizures or epilepsyHeart defects present at birthKidney or urinary tract abnormalitiesJoint hypermobility (very flexible joints)Vision problems such as lazy eye or farsightednessSkin that bruises easilyDental problems or widely spaced teethBehavioral challenges including attention difficulties
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 17q21.31 microdeletion syndrome.
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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 17q21.31 microdeletion 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 specific genes are deleted in my child's case, and does this affect the expected symptoms?,What therapies should we start right away, and how often should they occur?,Does my child need a heart or kidney evaluation?,Should we be watching for seizures, and what should we do if one occurs?,What educational supports and accommodations should we request at school?,Is there a risk of this happening again in future pregnancies?,Are there any clinical trials or research studies we should know about?
Common questions about 17q21.31 microdeletion syndrome
What is 17q21.31 microdeletion syndrome?
17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, is a rare genetic condition caused by a small missing piece (deletion) of chromosome 17. This deletion removes several genes that are important for brain development and other body functions. The syndrome was first described in 2006 and affects both males and females equally. Children with this condition typically have intellectual disability that ranges from mild to moderate, along with delayed speech and language development. Many children are described as having a friendly and cheerful personality. Common physical fea
How is 17q21.31 microdeletion syndrome inherited?
17q21.31 microdeletion syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does 17q21.31 microdeletion syndrome typically begin?
Typical onset of 17q21.31 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat 17q21.31 microdeletion syndrome?
2 specialists and care centers treating 17q21.31 microdeletion syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.