Overview
6q terminal deletion syndrome is a rare chromosomal condition caused by a missing piece at the end of chromosome 6 (the long arm, called 6q). This missing genetic material — called a deletion — disrupts the normal instructions the body uses to grow and develop. The size of the deletion can vary from person to person, which is why symptoms can look different in different individuals. Common names for this condition include '6q terminal deletion,' 'monosomy 6q,' and 'chromosome 6q deletion syndrome.' The condition affects many parts of the body and brain. Most people with 6q terminal deletion syndrome have some degree of intellectual disability and delayed development, meaning they may be slower to learn to talk, walk, or reach other milestones. Many also have distinctive facial features, low muscle tone (called hypotonia), and behavioral challenges. Some individuals have heart defects, seizures, or problems with vision or hearing. There is currently no cure for 6q terminal deletion syndrome. Treatment focuses on managing symptoms and supporting development. This usually involves a team of specialists and therapies such as speech therapy, physical therapy, and occupational therapy. With the right support, many individuals can make meaningful progress and live fulfilling lives. Early intervention is especially important for improving long-term outcomes.
Key symptoms:
Intellectual disability or learning difficultiesDelayed speech and language developmentDelayed motor milestones such as sitting and walkingLow muscle tone (hypotonia)Distinctive facial features such as widely spaced eyes, a broad forehead, or a small chinBehavioral challenges including attention difficulties or autism-like featuresSeizures or epilepsyHeart defects present at birthVision problemsHearing lossShort statureFeeding difficulties in infancyAbnormalities of the hands or feet
Clinical phenotype terms (49)— 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 6q terminal deletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 6q terminal deletion 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 6q terminal deletion syndrome.
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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.How large is the deletion on chromosome 6, and which genes are affected?,Should other family members be tested, and what does this mean for future pregnancies?,What therapies should we start right away, and how do we access early intervention services?,What signs of seizures should we watch for, and what should we do if one happens?,Does my child need a heart evaluation, and how often should it be repeated?,What educational supports and legal rights does my child have at school?,Are there any research studies or patient registries we should consider joining?
Common questions about 6q terminal deletion syndrome
What is 6q terminal deletion syndrome?
6q terminal deletion syndrome is a rare chromosomal condition caused by a missing piece at the end of chromosome 6 (the long arm, called 6q). This missing genetic material — called a deletion — disrupts the normal instructions the body uses to grow and develop. The size of the deletion can vary from person to person, which is why symptoms can look different in different individuals. Common names for this condition include '6q terminal deletion,' 'monosomy 6q,' and 'chromosome 6q deletion syndrome.' The condition affects many parts of the body and brain. Most people with 6q terminal deletion s
How is 6q terminal deletion syndrome inherited?
6q terminal deletion syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does 6q terminal deletion syndrome typically begin?
Typical onset of 6q terminal deletion syndrome is neonatal. Age of onset can vary across affected individuals.