Overview
3q27.3 microdeletion syndrome is an extremely rare genetic condition caused by a tiny missing piece (microdeletion) of chromosome 3 at a specific location called 3q27.3. Because a small segment of DNA is lost, one or more genes in that region do not work properly, which can affect how the body and brain develop. Children with this syndrome typically show developmental delay, meaning they may be slower to reach milestones like sitting, walking, and talking. Intellectual disability ranging from mild to moderate is common. Many affected individuals also have distinctive facial features, which may include a broad forehead, widely spaced eyes, a flat nasal bridge, or a thin upper lip. Some children may experience behavioral challenges such as attention difficulties or autism-like features. Growth problems, including short stature or feeding difficulties in infancy, have also been reported. Because so few cases have been described in the medical literature, the full range of symptoms is still being understood. There is currently no cure for this condition. Treatment focuses on managing individual symptoms through therapies such as speech therapy, occupational therapy, physical therapy, and special education support. Early intervention services can make a meaningful difference in a child's development and quality of life.
Also known as:
Key symptoms:
Developmental delayIntellectual disabilitySpeech and language delaysDistinctive facial featuresShort stature or growth problemsFeeding difficulties in infancyLow muscle tone (floppiness)Behavioral challengesAttention difficultiesAutism-like behaviorsMotor skill delaysLearning difficultiesWidely spaced eyesSmall head size
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for 3q27.3 microdeletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 3q27.3 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 3q27.3 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.What is the exact size 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 therapies should we start right away to support my child's development?,Are there any other medical tests we should do, such as heart or kidney imaging?,How often should my child have developmental assessments?,Should our other children or future pregnancies be tested for this deletion?,Are there any research studies or registries we can join for this condition?
Common questions about 3q27.3 microdeletion syndrome
What is 3q27.3 microdeletion syndrome?
3q27.3 microdeletion syndrome is an extremely rare genetic condition caused by a tiny missing piece (microdeletion) of chromosome 3 at a specific location called 3q27.3. Because a small segment of DNA is lost, one or more genes in that region do not work properly, which can affect how the body and brain develop. Children with this syndrome typically show developmental delay, meaning they may be slower to reach milestones like sitting, walking, and talking. Intellectual disability ranging from mild to moderate is common. Many affected individuals also have distinctive facial features, which may
How is 3q27.3 microdeletion syndrome inherited?
3q27.3 microdeletion syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does 3q27.3 microdeletion syndrome typically begin?
Typical onset of 3q27.3 microdeletion syndrome is infantile. Age of onset can vary across affected individuals.