Overview
1p35.2 microdeletion syndrome is an extremely rare genetic condition caused by a small missing piece (deletion) of chromosome 1 at a specific location called band p35.2. Because a portion of genetic material is lost, several genes that are important for normal development may be affected. This syndrome typically presents in early life and can cause a range of problems including developmental delay, intellectual disability, distinctive facial features, and sometimes birth defects affecting the heart or other organs. Children with this condition may be slower to reach milestones like sitting, walking, and talking compared to their peers. Because this syndrome is so rare, the full range of symptoms can vary widely from person to person depending on the exact size of the deletion and which genes are missing. Some individuals may be more mildly affected while others have more significant challenges. There is currently no cure for 1p35.2 microdeletion syndrome. Treatment focuses on managing individual symptoms and providing supportive therapies such as speech therapy, physical therapy, occupational therapy, and special education services. Early intervention programs can help children reach their full potential. Regular follow-up with a team of specialists is important to monitor for any associated health problems and adjust care as needed.
Also known as:
Key symptoms:
Developmental delayIntellectual disabilitySpeech and language delaysUnusual facial featuresLow muscle tone (floppiness)Feeding difficulties in infancyShort stature or growth delayHeart defectsBehavioral challengesSeizuresSmall head sizeLearning difficultiesMotor skill delays
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 1p35.2 microdeletion syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for 1p35.2 microdeletion syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for 1p35.2 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 1p35.2 microdeletion syndrome.
Community
No community posts yet. Be the first to share your experience with 1p35.2 microdeletion syndrome.
Start the conversation →Latest news about 1p35.2 microdeletion syndrome
No recent news articles for 1p35.2 microdeletion syndrome.
Follow this condition to be notified when news becomes available.
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, and what does that mean for future pregnancies?,What early intervention therapies should we start right away?,Are there any heart, brain, or other organ problems we should screen for?,How often should my child have developmental assessments?,Are there any clinical trials or research studies we could participate in?,What resources or support groups are available for families with this condition?
Common questions about 1p35.2 microdeletion syndrome
What is 1p35.2 microdeletion syndrome?
1p35.2 microdeletion syndrome is an extremely rare genetic condition caused by a small missing piece (deletion) of chromosome 1 at a specific location called band p35.2. Because a portion of genetic material is lost, several genes that are important for normal development may be affected. This syndrome typically presents in early life and can cause a range of problems including developmental delay, intellectual disability, distinctive facial features, and sometimes birth defects affecting the heart or other organs. Children with this condition may be slower to reach milestones like sitting, wa
At what age does 1p35.2 microdeletion syndrome typically begin?
Typical onset of 1p35.2 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.