Overview
9q21.13 microdeletion syndrome is a rare genetic condition caused by a tiny missing piece of chromosome 9, in a region called 9q21.13. Because this area of the chromosome contains important genes that help the brain and body develop properly, losing this small segment can cause a range of health and developmental challenges. The condition is also sometimes referred to simply as '9q21.13 deletion syndrome.' Only a small number of people worldwide have been diagnosed with this condition, so doctors are still learning about its full range of effects. The most common features include intellectual disability (difficulty with learning and thinking), delayed speech and language development, and behavioral differences such as autism spectrum disorder or attention difficulties. Many children with this syndrome also have low muscle tone (called hypotonia), which can make it harder to sit, stand, or walk on time. Some individuals may have mild differences in their facial features, and a smaller number may experience seizures. There is currently no cure for 9q21.13 microdeletion syndrome. Treatment focuses on supporting each person's individual needs through therapies such as speech therapy, physical therapy, and occupational therapy. Early intervention programs can make a meaningful difference in helping children reach their potential. A team of specialists typically works together to manage the various aspects of the condition.
Key symptoms:
Intellectual disability (difficulty with learning and thinking)Delayed speech and language developmentLow muscle tone (hypotonia), making movement harderDelayed motor milestones such as sitting, standing, or walking lateAutism spectrum disorder or autistic featuresBehavioral challenges such as hyperactivity or attention difficultiesMild distinctive facial featuresSeizures or epilepsy in some individualsFeeding difficulties in infancyDifficulty with social communication
Clinical phenotype terms (24)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for 9q21.13 microdeletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 9q21.13 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 9q21.13 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 specific genes are missing in my child's deletion, and how might that affect their development?,Should other family members be tested for this deletion?,What therapies should we start right away, and how often should my child receive them?,What signs of seizures should I watch for, and what should I do if one happens?,Are there any research studies or patient registries we can join to help advance understanding of this condition?,What educational supports should we request from our school district?,How will my child's needs likely change as they grow into adulthood?
Common questions about 9q21.13 microdeletion syndrome
What is 9q21.13 microdeletion syndrome?
9q21.13 microdeletion syndrome is a rare genetic condition caused by a tiny missing piece of chromosome 9, in a region called 9q21.13. Because this area of the chromosome contains important genes that help the brain and body develop properly, losing this small segment can cause a range of health and developmental challenges. The condition is also sometimes referred to simply as '9q21.13 deletion syndrome.' Only a small number of people worldwide have been diagnosed with this condition, so doctors are still learning about its full range of effects. The most common features include intellectual
At what age does 9q21.13 microdeletion syndrome typically begin?
Typical onset of 9q21.13 microdeletion syndrome is infantile. Age of onset can vary across affected individuals.