Overview
12p12.1 microdeletion syndrome is a rare genetic condition caused by a small missing piece (deletion) of genetic material on the short arm of chromosome 12, specifically at the region called 12p12.1. Because this deletion removes one or more important genes, it can affect how the body and brain develop. This condition is sometimes referred to as chromosome 12p12.1 deletion syndrome. Children born with this syndrome typically show developmental delays, 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, and low-set ears. Some children may have growth problems, including short stature or feeding difficulties in infancy. Heart defects and other organ abnormalities have been reported in some cases. Because this is an extremely rare condition, there is no specific cure or targeted treatment. Management focuses on supportive care tailored to each person's needs, including early intervention therapies such as speech therapy, occupational therapy, and physical therapy. Regular monitoring by a team of specialists helps address medical issues as they arise. With appropriate support, many individuals can make meaningful developmental progress, though the degree of improvement varies from person to person.
Also known as:
Key symptoms:
Developmental delayIntellectual disabilitySpeech and language delaysShort stature or growth problemsDistinctive facial featuresBroad foreheadWidely spaced eyesFlat nasal bridgeLow-set earsFeeding difficulties in infancyLow muscle tone (floppiness)Heart defectsBehavioral difficultiesLearning difficulties
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 12p12.1 microdeletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 12p12.1 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 12p12.1 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 of my child's deletion, and which genes are affected?,Was this deletion inherited or did it happen spontaneously?,What therapies should we start right away, and how often should they occur?,Does my child need a heart evaluation or other organ screening?,What developmental milestones should I watch for, and when should I be concerned?,Are there any specialists we should see regularly?,What resources or support groups are available for families with this condition?
Common questions about 12p12.1 microdeletion syndrome
What is 12p12.1 microdeletion syndrome?
12p12.1 microdeletion syndrome is a rare genetic condition caused by a small missing piece (deletion) of genetic material on the short arm of chromosome 12, specifically at the region called 12p12.1. Because this deletion removes one or more important genes, it can affect how the body and brain develop. This condition is sometimes referred to as chromosome 12p12.1 deletion syndrome. Children born with this syndrome typically show developmental delays, meaning they may be slower to reach milestones like sitting, walking, and talking. Intellectual disability ranging from mild to moderate is com
At what age does 12p12.1 microdeletion syndrome typically begin?
Typical onset of 12p12.1 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.