Overview
3p25.3 microdeletion syndrome is a rare genetic condition caused by a small missing piece (deletion) of chromosome 3 at a specific location called 3p25.3. This region contains important genes that play a role in brain development and overall growth. Because these genes are missing, children with this syndrome typically experience developmental delays, intellectual disability, and distinctive facial features. Common facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and a thin upper lip. Many children also have low muscle tone (hypotonia), which can affect their ability to sit, crawl, and walk on time. Some individuals may have behavioral challenges, including features of autism spectrum disorder or attention difficulties. Heart defects and other organ abnormalities have also been reported in some cases. The severity of symptoms can vary depending on the exact size of the deletion and which genes are affected. There is currently no cure for this condition, so treatment focuses on managing individual symptoms through therapies such as speech therapy, physical therapy, occupational therapy, and special education support. Early intervention services are very important to help children reach their full potential. Regular follow-up with a team of specialists is recommended to monitor development and address any medical concerns as they arise.
Also known as:
Key symptoms:
Developmental delaysIntellectual disabilityLow muscle tone (floppy muscles)Speech and language delaysDistinctive facial featuresWidely spaced eyesBroad foreheadFlat nasal bridgeThin upper lipBehavioral difficultiesFeatures of autism spectrum disorderFeeding difficulties in infancyShort stature or growth delaysHeart defects in some casesSeizures in some cases
Clinical phenotype terms (50)— hover any for plain English
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 3p25.3 microdeletion syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for 3p25.3 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 3p25.3 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 or did it happen spontaneously?,What therapies should we start right away, and how often?,Does my child need heart or other organ screening?,What developmental milestones should I watch for, and when should I be concerned?,Are there any clinical trials or research studies we could participate in?,What is the chance of this happening again in a future pregnancy?
Common questions about 3p25.3 microdeletion syndrome
What is 3p25.3 microdeletion syndrome?
3p25.3 microdeletion syndrome is a rare genetic condition caused by a small missing piece (deletion) of chromosome 3 at a specific location called 3p25.3. This region contains important genes that play a role in brain development and overall growth. Because these genes are missing, children with this syndrome typically experience developmental delays, intellectual disability, and distinctive facial features. Common facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and a thin upper lip. Many children also have low muscle tone (hypotonia), which can affect th
How is 3p25.3 microdeletion syndrome inherited?
3p25.3 microdeletion syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does 3p25.3 microdeletion syndrome typically begin?
Typical onset of 3p25.3 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.