Overview
13q12.3 microdeletion syndrome is a rare genetic condition caused by a small missing piece (deletion) of chromosome 13 at a specific location called 12.3. This syndrome is sometimes referred to as chromosome 13q12.3 deletion syndrome. Because this region of the chromosome contains important genes that help with brain development and body growth, people with this deletion often experience developmental delays, intellectual disability, and distinctive facial features. The key symptoms can vary from person to person, but commonly include delayed speech and language development, learning difficulties, low muscle tone (hypotonia), feeding problems in infancy, and mild to moderate intellectual disability. Some individuals may also have behavioral challenges such as attention difficulties or autism spectrum features. Facial features may include a broad forehead, widely spaced eyes, and a flat nasal bridge, though these can be subtle. There is currently no cure for 13q12.3 microdeletion syndrome. Treatment focuses on managing individual symptoms through early intervention programs, speech therapy, occupational therapy, physical therapy, and educational support. With appropriate therapies and support, many individuals can make meaningful developmental progress. The specific genes deleted and the size of the deletion can influence how severely a person is affected, which is why each patient's experience may differ.
Also known as:
Key symptoms:
Delayed speech and language developmentIntellectual disability (mild to moderate)Low muscle tone (floppy muscles)Feeding difficulties in infancyDevelopmental delays in motor skillsDistinctive facial features such as broad forehead or widely spaced eyesShort stature or growth delaysBehavioral challenges such as attention problemsAutism spectrum features in some individualsLearning difficulties in schoolSeizures in some casesHeart defects in some individualsSmall head size (microcephaly) in some cases
Clinical phenotype terms (30)— 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 13q12.3 microdeletion syndrome.
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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 13q12.3 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, and how often should they occur?,Are there any heart, brain, or other organ problems we should screen for?,What kind of educational support will my child likely need?,Should other family members be tested for chromosomal changes?,What is the long-term outlook for my child's development and independence?
Common questions about 13q12.3 microdeletion syndrome
What is 13q12.3 microdeletion syndrome?
13q12.3 microdeletion syndrome is a rare genetic condition caused by a small missing piece (deletion) of chromosome 13 at a specific location called 12.3. This syndrome is sometimes referred to as chromosome 13q12.3 deletion syndrome. Because this region of the chromosome contains important genes that help with brain development and body growth, people with this deletion often experience developmental delays, intellectual disability, and distinctive facial features. The key symptoms can vary from person to person, but commonly include delayed speech and language development, learning difficul
At what age does 13q12.3 microdeletion syndrome typically begin?
Typical onset of 13q12.3 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat 13q12.3 microdeletion syndrome?
6 specialists and care centers treating 13q12.3 microdeletion syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.