Overview
16q24.1 microdeletion syndrome is a rare genetic condition caused by a small missing piece (deletion) of genetic material on the long arm of chromosome 16, specifically at the region called 24.1. Because this deletion removes one or more important genes, it can affect how the brain and body develop. Children born with this syndrome often show developmental delays, meaning they may be slower to reach milestones like sitting, walking, or talking. Intellectual disability ranging from mild to moderate is common, and many children also have behavioral challenges such as autism spectrum features or attention difficulties. Some individuals may have distinctive facial features, growth problems, or other birth differences affecting the heart or other organs. Because this is an extremely rare condition, the full range of symptoms is still being understood as more patients are identified through modern genetic testing. There is currently no cure for 16q24.1 microdeletion syndrome. Treatment focuses on managing individual symptoms through early intervention programs, speech therapy, occupational therapy, physical therapy, and behavioral support. Some patients may need specialty care for heart defects or other organ involvement. With appropriate support and therapies started early in life, many individuals can make meaningful developmental progress and improve their quality of life.
Also known as:
Key symptoms:
Developmental delay (slow to reach milestones)Intellectual disabilitySpeech and language delaysAutism spectrum features or social difficultiesAttention problems or hyperactivityDistinctive facial featuresLow muscle tone (feeling floppy as a baby)Growth delays or short statureFeeding difficulties in infancySeizures in some individualsHeart defects in some individualsBehavioral challengesMotor coordination difficultiesLearning disabilities
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 16q24.1 microdeletion syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for 16q24.1 microdeletion syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for 16q24.1 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 16q24.1 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 from a parent or did it happen for the first time in my child?,What specific therapies and early intervention services do you recommend starting now?,Should my child have heart, brain, or other organ screening tests?,What developmental milestones should I watch for, and when should I be concerned?,Are there any clinical studies or research programs we could participate in?,What is the chance of this happening again in a future pregnancy?
Common questions about 16q24.1 microdeletion syndrome
What is 16q24.1 microdeletion syndrome?
16q24.1 microdeletion syndrome is a rare genetic condition caused by a small missing piece (deletion) of genetic material on the long arm of chromosome 16, specifically at the region called 24.1. Because this deletion removes one or more important genes, it can affect how the brain and body develop. Children born with this syndrome often show developmental delays, meaning they may be slower to reach milestones like sitting, walking, or talking. Intellectual disability ranging from mild to moderate is common, and many children also have behavioral challenges such as autism spectrum features or
How is 16q24.1 microdeletion syndrome inherited?
16q24.1 microdeletion syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does 16q24.1 microdeletion syndrome typically begin?
Typical onset of 16q24.1 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.