Overview
9q33.3q34.11 microdeletion syndrome is a rare genetic condition caused by a small missing piece of chromosome 9, in a region called 9q33.3 to 9q34.11. Because this piece of DNA is deleted, several genes that are normally present are missing, and this affects how the brain and body develop. The condition is also sometimes referred to simply as a '9q34 deletion' or '9q microdeletion,' depending on exactly where the deletion starts and ends. Most people with this syndrome have intellectual disability, meaning they may learn more slowly than their peers and need extra support in school and daily life. Delays in speech and language are very common, and many children are late to talk or have difficulty communicating clearly. Problems with muscle tone, behavior challenges (including features that can look like autism), and distinctive facial features are also frequently seen. Some individuals may have heart defects or seizures. There is currently no cure for this syndrome. Care focuses on supporting each person's individual needs through therapies such as speech therapy, occupational therapy, and physical therapy. Early intervention is very important and can make a meaningful difference in a child's development. A team of specialists typically works together to manage the various ways this condition can affect the body.
Key symptoms:
Intellectual disability (learning difficulties)Delayed speech and language developmentLow muscle tone (feeling floppy, especially in infancy)Behavioral challenges, including features similar to autismDistinctive facial features (such as widely spaced eyes, a broad forehead, or a small chin)Delayed walking and motor milestonesSeizures in some individualsHeart defects (present in some cases)Feeding difficulties in infancyShort statureHyperactivity or attention difficulties
Clinical phenotype terms (50)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for 9q33.3q34.11 microdeletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 9q33.3q34.11 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 9q33.3q34.11 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.Which specific genes are missing in my child's deletion, and what does that mean for their health?,Should my child be tested for heart problems or seizures even if none have been noticed yet?,What therapies should we start right away, and how do we access early intervention services?,Should other family members be tested to see if they carry this deletion?,What signs should prompt us to seek emergency care?,Are there any research studies or registries for this condition that we could join?,What should we expect as our child gets older, and how do we plan for their adult care needs?
Common questions about 9q33.3q34.11 microdeletion syndrome
What is 9q33.3q34.11 microdeletion syndrome?
9q33.3q34.11 microdeletion syndrome is a rare genetic condition caused by a small missing piece of chromosome 9, in a region called 9q33.3 to 9q34.11. Because this piece of DNA is deleted, several genes that are normally present are missing, and this affects how the brain and body develop. The condition is also sometimes referred to simply as a '9q34 deletion' or '9q microdeletion,' depending on exactly where the deletion starts and ends. Most people with this syndrome have intellectual disability, meaning they may learn more slowly than their peers and need extra support in school and daily
How is 9q33.3q34.11 microdeletion syndrome inherited?
9q33.3q34.11 microdeletion syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does 9q33.3q34.11 microdeletion syndrome typically begin?
Typical onset of 9q33.3q34.11 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.