Overview
20p12.3 microdeletion syndrome is a rare genetic condition caused by a small missing piece (deletion) of genetic material on the short arm of chromosome 20, specifically at the region labeled 12.3. This region contains several genes, and the loss of one or more of these genes leads to a range of developmental and physical problems. The syndrome is also sometimes referred to as chromosome 20p12.3 deletion syndrome. Children with this condition typically show developmental delay, intellectual disability that ranges from mild to moderate, speech and language difficulties, and behavioral challenges. Some individuals may also have distinctive facial features, such as a broad forehead, widely spaced eyes, or a flat nasal bridge. Growth problems, including short stature, and feeding difficulties in infancy have also been reported. Seizures may occur in some cases. Because this is an extremely rare condition, there is no specific cure or targeted treatment. Management focuses on supportive care tailored to each person's needs, including speech therapy, occupational therapy, physical therapy, special education services, and behavioral support. Early intervention programs can help children reach their full potential. Regular follow-up with a team of specialists is important to monitor development and address any emerging medical concerns.
Also known as:
Key symptoms:
Developmental delayIntellectual disability (mild to moderate)Speech and language delaysBehavioral difficulties such as attention problems or hyperactivityDistinctive facial featuresShort stature or growth delayFeeding difficulties in infancyLow muscle tone (hypotonia)Seizures in some individualsLearning difficultiesMotor skill delaysAnxiety or social difficultiesSleep problems
Clinical phenotype terms (23)— 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 20p12.3 microdeletion syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for 20p12.3 microdeletion syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for 20p12.3 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 20p12.3 microdeletion syndrome.
Community
No community posts yet. Be the first to share your experience with 20p12.3 microdeletion syndrome.
Start the conversation →Latest news about 20p12.3 microdeletion syndrome
No recent news articles for 20p12.3 microdeletion syndrome.
Follow this condition to be notified when news becomes available.
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 of my child's deletion, and which genes are affected?,Was this deletion inherited or did it happen spontaneously?,What therapies should we start right away to support development?,Should we be screening for seizures or other medical complications?,How often should my child have developmental assessments?,Are there any clinical studies or research programs we could participate in?,What resources are available to help with school accommodations and long-term planning?
Common questions about 20p12.3 microdeletion syndrome
What is 20p12.3 microdeletion syndrome?
20p12.3 microdeletion syndrome is a rare genetic condition caused by a small missing piece (deletion) of genetic material on the short arm of chromosome 20, specifically at the region labeled 12.3. This region contains several genes, and the loss of one or more of these genes leads to a range of developmental and physical problems. The syndrome is also sometimes referred to as chromosome 20p12.3 deletion syndrome. Children with this condition typically show developmental delay, intellectual disability that ranges from mild to moderate, speech and language difficulties, and behavioral challeng
At what age does 20p12.3 microdeletion syndrome typically begin?
Typical onset of 20p12.3 microdeletion syndrome is infantile. Age of onset can vary across affected individuals.