Overview
RERE-related neurodevelopmental syndrome is a rare genetic condition caused by changes (variants) or deletions in the RERE gene. It is also sometimes called 'chromosome 1p36 deletion syndrome-like disorder' when a small piece of chromosome 1 containing the RERE gene is missing, though it can also occur from a change within the gene itself. This condition affects brain development and can also impact the eyes, heart, kidneys, and other organs. People with this syndrome typically show signs early in life, including intellectual disability, delayed speech and motor development, and behavioral challenges. Many also have features such as low muscle tone (hypotonia), seizures, and distinct facial features. Eye problems, hearing loss, and heart defects are also reported in some individuals. There is currently no cure for RERE-related neurodevelopmental syndrome. Treatment focuses on managing symptoms and supporting development. This includes early intervention therapies such as speech therapy, physical therapy, and occupational therapy. Seizures may be managed with anti-epileptic medications. A team of specialists is usually needed to address the many ways this condition can affect the body. With the right support, many individuals can make meaningful developmental progress.
Key symptoms:
Intellectual disability or learning difficultiesDelayed speech and language developmentDelayed motor milestones such as sitting or walking lateLow muscle tone (hypotonia)Seizures or epilepsyBehavioral challenges such as autism-like features or hyperactivityDistinct facial featuresEye problems such as vision loss or structural eye abnormalitiesHearing lossHeart defectsKidney or urinary tract abnormalitiesShort statureFeeding difficulties in infancy
Clinical phenotype terms (50)— hover any for plain English
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 RERE-related neurodevelopmental syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for RERE-related neurodevelopmental syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for RERE-related neurodevelopmental 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 RERE-related neurodevelopmental syndrome.
Community
No community posts yet. Be the first to share your experience with RERE-related neurodevelopmental syndrome.
Start the conversation →Latest news about RERE-related neurodevelopmental syndrome
No recent news articles for RERE-related neurodevelopmental 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 specific change was found in the RERE gene, and what does that mean for my child's prognosis?,Should other family members be tested for this genetic change?,What therapies should we start right away, and how often should they happen?,What specialists does my child need to see, and how often?,What signs should prompt me to seek emergency care?,Are there any clinical trials or research studies we could participate in?,What support services or educational resources are available for my child?
Common questions about RERE-related neurodevelopmental syndrome
What is RERE-related neurodevelopmental syndrome?
RERE-related neurodevelopmental syndrome is a rare genetic condition caused by changes (variants) or deletions in the RERE gene. It is also sometimes called 'chromosome 1p36 deletion syndrome-like disorder' when a small piece of chromosome 1 containing the RERE gene is missing, though it can also occur from a change within the gene itself. This condition affects brain development and can also impact the eyes, heart, kidneys, and other organs. People with this syndrome typically show signs early in life, including intellectual disability, delayed speech and motor development, and behavioral ch
How is RERE-related neurodevelopmental syndrome inherited?
RERE-related neurodevelopmental syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does RERE-related neurodevelopmental syndrome typically begin?
Typical onset of RERE-related neurodevelopmental syndrome is infantile. Age of onset can vary across affected individuals.