Overview
3q26q27 microdeletion syndrome is a very rare genetic condition caused by a small missing piece (microdeletion) of chromosome 3, specifically in the region known as 3q26 to 3q27. Because this region contains several important genes, losing a copy of them can affect many parts of the body during development. Children born with this syndrome typically show developmental delay, intellectual disability, and distinctive facial features. Growth problems, including short stature and low birth weight, are also commonly reported. Some individuals may have birth defects affecting the heart, kidneys, or other organs. The severity of symptoms can vary widely depending on the exact size and location of the deleted segment — larger deletions tend to cause more significant problems. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on addressing each individual's symptoms through supportive therapies such as speech therapy, physical therapy, occupational therapy, and special education services. Heart or kidney problems, if present, may require monitoring or surgical intervention. Early diagnosis through genetic testing allows families to access appropriate developmental support as early as possible, which can improve outcomes. A team of specialists typically works together to provide comprehensive care for affected individuals.
Also known as:
Key symptoms:
Developmental delayIntellectual disabilityDistinctive facial featuresShort statureLow birth weightDelayed speech and languageLow muscle tone (floppiness)Feeding difficulties in infancyHeart defectsKidney abnormalitiesSmall head sizeBehavioral difficultiesSeizures in some casesWidely spaced eyes
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 3q26q27 microdeletion syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for 3q26q27 microdeletion syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for 3q26q27 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 3q26q27 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 spontaneously, and what does that mean for future pregnancies?,What developmental therapies should we start right away?,Does my child need heart or kidney screening?,How often should we schedule follow-up visits with each specialist?,Are there any clinical studies or registries we should consider joining?,What educational supports and services is my child entitled to?
Common questions about 3q26q27 microdeletion syndrome
What is 3q26q27 microdeletion syndrome?
3q26q27 microdeletion syndrome is a very rare genetic condition caused by a small missing piece (microdeletion) of chromosome 3, specifically in the region known as 3q26 to 3q27. Because this region contains several important genes, losing a copy of them can affect many parts of the body during development. Children born with this syndrome typically show developmental delay, intellectual disability, and distinctive facial features. Growth problems, including short stature and low birth weight, are also commonly reported. Some individuals may have birth defects affecting the heart, kidneys, or
At what age does 3q26q27 microdeletion syndrome typically begin?
Typical onset of 3q26q27 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.