Overview
8q24.3 microdeletion syndrome is a rare genetic condition caused by a tiny missing piece of chromosome 8, specifically at a location called 8q24.3. This deletion removes a small segment of genetic material that contains several important genes. Because this region is missing, the body does not receive the full set of instructions it needs to develop normally. The condition is also sometimes referred to as 'chromosome 8q24.3 deletion syndrome.' It belongs to a broader group of conditions called chromosomal microdeletion syndromes. People with this condition often show signs from birth or early childhood. The most common features include intellectual disability, delayed development of speech and motor skills, and distinctive facial features. Some individuals also have heart defects, problems with muscle tone, and behavioral challenges. The severity of symptoms can vary quite a bit from person to person, even among those with a similar-sized deletion. There is currently no cure for 8q24.3 microdeletion syndrome. Treatment focuses on managing individual symptoms and supporting development. This typically involves early intervention programs, speech therapy, physical therapy, occupational therapy, and special education support. With the right therapies and support, many individuals can make meaningful progress and improve their quality of life.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesDelayed speech and language developmentDelayed motor skills such as sitting, standing, or walkingLow muscle tone (hypotonia)Distinctive facial features such as widely spaced eyes or a small headBehavioral challenges including attention difficulties or autism-like featuresCongenital heart defects in some individualsShort statureFeeding difficulties in infancySeizures in some individuals
Clinical phenotype terms (50)— hover any for plain English
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 8q24.3 microdeletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 8q24.3 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 8q24.3 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.Which specific genes are missing in my child's deletion, and how does that affect their symptoms?,What therapies should we start right away, and how often should they happen?,Does my child need a heart evaluation, and how often should it be repeated?,What is the chance that another child of ours could have this condition?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to seek emergency care?,What support services or educational resources are available in our area?
Common questions about 8q24.3 microdeletion syndrome
What is 8q24.3 microdeletion syndrome?
8q24.3 microdeletion syndrome is a rare genetic condition caused by a tiny missing piece of chromosome 8, specifically at a location called 8q24.3. This deletion removes a small segment of genetic material that contains several important genes. Because this region is missing, the body does not receive the full set of instructions it needs to develop normally. The condition is also sometimes referred to as 'chromosome 8q24.3 deletion syndrome.' It belongs to a broader group of conditions called chromosomal microdeletion syndromes. People with this condition often show signs from birth or early
At what age does 8q24.3 microdeletion syndrome typically begin?
Typical onset of 8q24.3 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.