Overview
1p31p32 microdeletion syndrome is a very rare genetic condition caused by a small missing piece (microdeletion) of genetic material on the short arm of chromosome 1, specifically in the region between bands p31 and p32. Because this deletion removes several genes at once, it can affect multiple body systems. Children born with this condition typically show developmental delay, meaning they may be slower to reach milestones like sitting, walking, and talking compared to other children their age. 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 also experience seizures, behavioral challenges such as autism spectrum features, and problems with growth or feeding in early life. Because this syndrome is so rare, the full range of symptoms is still being understood as more patients are identified. There is currently no cure for 1p31p32 microdeletion syndrome. Treatment focuses on managing individual symptoms and supporting development through therapies such as speech therapy, occupational therapy, and physical therapy. Early intervention services can make a meaningful difference in a child's progress. Seizures, if present, are managed with anti-seizure medications. Regular follow-up with a team of specialists is important to monitor growth, development, and any emerging medical concerns.
Also known as:
Key symptoms:
Developmental delayIntellectual disabilitySpeech and language delaysDistinctive facial featuresSeizures or epilepsyLow muscle tone (floppiness in infancy)Feeding difficulties in infancyGrowth delay or short statureBehavioral challengesAutism spectrum featuresWidely spaced eyesBroad foreheadFlat nasal bridgeLow-set earsMotor skill delays
Clinical phenotype terms (18)— 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 1p31p32 microdeletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for 1p31p32 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 1p31p32 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 and location 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 to support development?,Should my child be monitored for seizures, and what signs should I watch for?,Are there any other organ systems we should screen, such as the heart or kidneys?,What educational supports or accommodations should we request at school?,Are there any research studies or registries we can participate in?
Common questions about 1p31p32 microdeletion syndrome
What is 1p31p32 microdeletion syndrome?
1p31p32 microdeletion syndrome is a very rare genetic condition caused by a small missing piece (microdeletion) of genetic material on the short arm of chromosome 1, specifically in the region between bands p31 and p32. Because this deletion removes several genes at once, it can affect multiple body systems. Children born with this condition typically show developmental delay, meaning they may be slower to reach milestones like sitting, walking, and talking compared to other children their age. Intellectual disability ranging from mild to moderate is common. Many affected individuals also have
How is 1p31p32 microdeletion syndrome inherited?
1p31p32 microdeletion syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does 1p31p32 microdeletion syndrome typically begin?
Typical onset of 1p31p32 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.