Weaver-like syndrome

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Overview

Weaver-like syndrome is an extremely rare genetic condition that shares many features with classic Weaver syndrome but does not have the same known genetic cause. The term 'Weaver-like' is used when a person shows the hallmark signs of Weaver syndrome — such as accelerated growth (overgrowth), advanced bone age, a distinctive facial appearance, and intellectual disability — but genetic testing does not confirm a mutation in the EZH2 gene, which is the usual cause of classic Weaver syndrome. Because of this, Weaver-like syndrome may represent a group of conditions caused by different, possibly still-unidentified genes that produce a very similar set of symptoms. Children with Weaver-like syndrome are often larger than expected at birth and continue to grow faster than their peers. They may have a broad forehead, widely spaced eyes, a long head shape, and a small chin. Developmental milestones such as sitting, walking, and talking may be delayed. Some children also experience low muscle tone (hypotonia), joint problems, and mild to moderate intellectual disability. Other features can include loose skin, a hoarse or low-pitched cry, and skeletal abnormalities. There is currently no cure for Weaver-like syndrome. Treatment focuses on managing individual symptoms and supporting development through therapies such as physical therapy, occupational therapy, and speech therapy. Regular monitoring by a team of specialists is important to address any complications as they arise.

Key symptoms:

Faster-than-normal growth (overgrowth)Large size at birthAdvanced bone age on X-raysBroad foreheadWidely spaced eyesLong or large head shapeSmall or receding chinLow muscle tone (floppiness)Delayed developmental milestonesMild to moderate intellectual disabilityLoose or extra skinHoarse or low-pitched cryJoint stiffness or limited movementSkeletal abnormalitiesSpeech and language delays

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Weaver-like syndrome.

View clinical trials →

No actively recruiting trials found for Weaver-like syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Weaver-like syndrome community →

No specialists are currently listed for Weaver-like syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Weaver-like syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Weaver-like syndrome

No recent news articles for Weaver-like syndrome.

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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 genetic tests have been done, and are there additional tests that could help identify the cause?,What therapies do you recommend to support my child's development?,How often should my child's growth and bone age be monitored?,Are there any complications I should watch for as my child grows?,Should we consider whole exome or whole genome sequencing?,Are there any clinical trials or research studies we could participate in?,What educational supports should I request for my child at school?

Common questions about Weaver-like syndrome

What is Weaver-like syndrome?

Weaver-like syndrome is an extremely rare genetic condition that shares many features with classic Weaver syndrome but does not have the same known genetic cause. The term 'Weaver-like' is used when a person shows the hallmark signs of Weaver syndrome — such as accelerated growth (overgrowth), advanced bone age, a distinctive facial appearance, and intellectual disability — but genetic testing does not confirm a mutation in the EZH2 gene, which is the usual cause of classic Weaver syndrome. Because of this, Weaver-like syndrome may represent a group of conditions caused by different, possibly

At what age does Weaver-like syndrome typically begin?

Typical onset of Weaver-like syndrome is neonatal. Age of onset can vary across affected individuals.