Overview
20p13 microdeletion syndrome is a rare genetic condition caused by a small missing piece (microdeletion) of genetic material on the short arm of chromosome 20, specifically at the region labeled 13 (20p13). Because this region contains several important genes, losing a copy of them can affect how the brain and body develop. Children with this syndrome typically show developmental delay, intellectual disability, and speech and language problems. Many also have distinctive facial features, which may include a broad forehead, widely spaced eyes, a flat nasal bridge, and low-set ears. Some children may experience seizures, behavioral difficulties such as autism spectrum features, and problems with muscle tone (either too floppy or too stiff). Growth may also be affected, with some children being smaller than expected for their age. Because this is an extremely rare condition, the full range of symptoms can vary widely from person to person depending on the exact size and location of the deleted segment. There is currently no cure for 20p13 microdeletion syndrome. Treatment focuses on managing individual symptoms and supporting development. This may include speech therapy, occupational therapy, physical therapy, special education services, and medications to control seizures if they occur. Early intervention programs are very important to help children reach their full potential. A team of specialists typically works together to provide comprehensive care.
Key symptoms:
Developmental delayIntellectual disabilitySpeech and language delaysSeizures or epilepsyLow muscle tone (floppiness)Distinctive facial featuresBehavioral difficultiesAutism spectrum featuresShort stature or poor growthFeeding difficulties in infancyLearning difficultiesWidely spaced eyesBroad or prominent foreheadMotor skill delays
Clinical phenotype terms (35)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for 20p13 microdeletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 20p13 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 20p13 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 is the exact size and location of my child's deletion, and which genes are affected?,Was this deletion inherited or did it happen for the first time in my child?,What therapies should we start right away to support my child's development?,Should my child have a brain MRI or EEG?,What should I watch for in terms of seizures, and what should I do if one occurs?,Are there any other specialists my child should see?,What is the chance of this happening again in a future pregnancy?
Common questions about 20p13 microdeletion syndrome
What is 20p13 microdeletion syndrome?
20p13 microdeletion syndrome is a rare genetic condition caused by a small missing piece (microdeletion) of genetic material on the short arm of chromosome 20, specifically at the region labeled 13 (20p13). Because this region contains several important genes, losing a copy of them can affect how the brain and body develop. Children with this syndrome typically show developmental delay, intellectual disability, and speech and language problems. Many also have distinctive facial features, which may include a broad forehead, widely spaced eyes, a flat nasal bridge, and low-set ears. Some childre
At what age does 20p13 microdeletion syndrome typically begin?
Typical onset of 20p13 microdeletion syndrome is infantile. Age of onset can vary across affected individuals.