Living with Weaver syndrome
A genetic condition with tall stature, usually mild learning difficulty, and distinctive facial features, starting before or at birth.
Understanding Weaver syndrome
Some people also have a large head. Facial features can include a broad forehead, widely spaced eyes, large low-set ears, a dimpled chin, and a small lower jaw. Stiff joints, a curved spine, loose skin, and a belly-button hernia can occur. GARD says there may be a slightly raised chance of a childhood tumor called neuroblastoma, but exact risk is hard to know.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tall stature and large head
- Developmental delay and intellectual disability
- Broad forehead
- Hoarse, low-pitched voice
- Feeding difficulties in infancy
- Stiff or increased muscle tone
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in EZH2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The MAGIC Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Weaver syndrome is caused by changes in the EZH2 gene. A child can get it from one parent with the changed gene (autosomal dominant).
Also known as: camptodactyly-overgrowth-unusual facies syndrome; overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly; weaver smith syndrome; weaver-like syndrome; wvs
Patient organizations
- The MAGIC FoundationWeaver syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Weaver syndrome.
Explore research for Weaver syndrome
Explore actively recruiting Weaver syndrome studies with HealthSpark.
Find actively recruiting studies for Weaver syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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