Overview
20q11.2 microdeletion syndrome is a rare genetic condition caused by a tiny missing piece of chromosome 20, specifically in a region called 20q11.2. This missing segment means that certain genes in that area are absent, which can affect how the body and brain develop. The condition is also sometimes referred to as chromosome 20q11.2 deletion syndrome. Because this is a very recently described and rare syndrome, our understanding of it is still growing. People with this condition may experience a range of challenges, including intellectual disability, delayed development, and distinctive physical features. Some individuals have differences in how their heart, kidneys, or other organs are formed. Behavioral differences and learning difficulties are also commonly reported. The severity of symptoms can vary quite a bit from one person to another, even among people with a similar-sized deletion. There is currently no cure for 20q11.2 microdeletion syndrome. Treatment focuses on managing individual symptoms and supporting development. This typically involves early intervention programs, speech therapy, occupational therapy, physical therapy, and educational support. Regular monitoring by a team of specialists helps address medical issues as they arise and improves quality of life.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesDelayed speech and language developmentDelayed motor milestones such as sitting or walking lateDistinctive facial featuresLow muscle tone (hypotonia)Behavioral challenges such as attention difficulties or autism-like featuresHeart defects present at birthKidney or urinary tract abnormalitiesShort statureFeeding difficulties in infancy
Clinical phenotype terms (19)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for 20q11.2 microdeletion syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for 20q11.2 microdeletion 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 20q11.2 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 missing in my child's deletion, and what does that mean for their health?,What specialists should be part of my child's care team, and how often should we see each one?,Are there any heart, kidney, or other organ problems we should screen for right away?,What early intervention therapies do you recommend, and how do we access them?,Is this deletion inherited from a parent, or did it happen for the first time in my child?,What should I watch for that would require an urgent or emergency visit?,Are there any research studies or patient registries we should consider joining?
Common questions about 20q11.2 microdeletion syndrome
What is 20q11.2 microdeletion syndrome?
20q11.2 microdeletion syndrome is a rare genetic condition caused by a tiny missing piece of chromosome 20, specifically in a region called 20q11.2. This missing segment means that certain genes in that area are absent, which can affect how the body and brain develop. The condition is also sometimes referred to as chromosome 20q11.2 deletion syndrome. Because this is a very recently described and rare syndrome, our understanding of it is still growing. People with this condition may experience a range of challenges, including intellectual disability, delayed development, and distinctive physi
At what age does 20q11.2 microdeletion syndrome typically begin?
Typical onset of 20q11.2 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.