Overview
8q21.11 microdeletion syndrome is a very rare genetic condition caused by a small missing piece (deletion) of chromosome 8 in the region known as 8q21.11. 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 as 8q21.11 deletion syndrome or chromosome 8q21.11 microdeletion. People with this condition typically show intellectual disability or developmental delay, meaning they may take longer to reach milestones like sitting, walking, and talking. Speech and language development are often significantly affected. Some individuals may also have distinctive facial features, behavioral challenges, and problems with muscle tone (either too floppy or too stiff). Seizures have been reported in some cases. The severity of symptoms can vary from person to person depending on the exact size of the deletion and which genes are missing. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on supportive therapies such as speech therapy, occupational therapy, physical therapy, and special education services. Seizures, if present, are treated with standard anti-seizure medications. Early intervention programs can help children reach their full potential. A team of specialists typically works together to address the various needs of affected individuals.
Also known as:
Key symptoms:
Intellectual disabilityDelayed speech and language developmentDelayed motor milestones such as sitting and walkingLow muscle tone (floppiness)Distinctive facial featuresBehavioral difficultiesSeizures or epilepsyLearning difficultiesShort stature or growth delayFeeding difficulties in infancyAttention problemsPoor coordination
Clinical phenotype terms (39)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for 8q21.11 microdeletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 8q21.11 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 8q21.11 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.What is the exact size of my child's deletion and which genes are affected?,Was this deletion inherited or did it happen for the first time in my child?,What therapies should we start right away to support development?,Should we be watching for seizures, and what should we do if one happens?,How often should my child have follow-up appointments with specialists?,Are there any clinical trials or research studies we could participate in?,What is the long-term outlook for my child's independence and quality of life?
Common questions about 8q21.11 microdeletion syndrome
What is 8q21.11 microdeletion syndrome?
8q21.11 microdeletion syndrome is a very rare genetic condition caused by a small missing piece (deletion) of chromosome 8 in the region known as 8q21.11. 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 as 8q21.11 deletion syndrome or chromosome 8q21.11 microdeletion. People with this condition typically show intellectual disability or developmental delay, meaning they may take longer to reach milestones like sitting, walking, and talking. Speech and languag
How is 8q21.11 microdeletion syndrome inherited?
8q21.11 microdeletion syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does 8q21.11 microdeletion syndrome typically begin?
Typical onset of 8q21.11 microdeletion syndrome is infantile. Age of onset can vary across affected individuals.