Overview
2p13.2 microdeletion syndrome is a very rare genetic condition caused by a small missing piece (deletion) of genetic material on the short arm of chromosome 2, specifically at the region labeled 13.2. Because this deletion removes one or more genes that are important for normal development, it can affect how the brain and body grow and function. The syndrome is sometimes referred to simply as 2p13.2 deletion syndrome. Children with this condition typically show developmental delay, meaning they may be slower to reach milestones like sitting, walking, and talking compared to other children their age. Intellectual disability ranging from mild to moderate is common. Many affected individuals also have distinctive facial features, which may include a broad forehead, widely spaced eyes, a flat nasal bridge, and a thin upper lip. Some children may also experience behavioral difficulties, feeding problems in infancy, and low muscle tone (hypotonia). Seizures have been reported in some cases. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on supportive care tailored to each person's needs, including speech therapy, physical therapy, occupational therapy, and special education services. Early intervention programs can make a meaningful difference in a child's development and quality of life. A team of specialists typically works together to address the various aspects of the condition.
Also known as:
Key symptoms:
Developmental delayIntellectual disabilitySpeech and language delayLow muscle tone (floppiness)Distinctive facial featuresBroad foreheadWidely spaced eyesFlat nasal bridgeFeeding difficulties in infancyBehavioral problemsSeizuresShort statureSmall head sizeLearning difficulties
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 2p13.2 microdeletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 2p13.2 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 2p13.2 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 is the exact size of my child's deletion, and which genes are affected?,Was this deletion inherited from a parent or did it happen for the first time in my child?,What therapies should we start right away, and how often should they occur?,Should my child be monitored for seizures or other medical complications?,What kind of educational support will my child likely need?,Are there any other specialists we should see?,If we plan to have more children, what is the chance this could happen again?
Common questions about 2p13.2 microdeletion syndrome
What is 2p13.2 microdeletion syndrome?
2p13.2 microdeletion syndrome is a very rare genetic condition caused by a small missing piece (deletion) of genetic material on the short arm of chromosome 2, specifically at the region labeled 13.2. Because this deletion removes one or more genes that are important for normal development, it can affect how the brain and body grow and function. The syndrome is sometimes referred to simply as 2p13.2 deletion syndrome. Children with this condition typically show developmental delay, meaning they may be slower to reach milestones like sitting, walking, and talking compared to other children the
At what age does 2p13.2 microdeletion syndrome typically begin?
Typical onset of 2p13.2 microdeletion syndrome is infantile. Age of onset can vary across affected individuals.