Overview
Weaver-Williams syndrome is an extremely rare genetic condition that affects multiple body systems. It is sometimes referred to by its Orphanet designation (ORPHA:3448) and falls under the broader category of multiple congenital anomaly syndromes. This condition is characterized by a combination of physical differences present at birth, including distinctive facial features, skeletal abnormalities, and developmental delays. Affected individuals may have growth problems, joint contractures (stiffness in the joints), and intellectual disability of varying degrees. Because Weaver-Williams syndrome is so rare, with only a handful of cases described in the medical literature, our understanding of the full range of symptoms and the natural history of the condition remains limited. The syndrome was originally described based on a small number of patients who shared overlapping features including unusual facial appearance, limb anomalies, and developmental concerns. There is currently no cure for Weaver-Williams syndrome. Treatment is supportive and focuses on managing individual symptoms. This may include physical therapy for joint and movement problems, special education services for developmental delays, and regular monitoring by a team of specialists. Early intervention programs can help children reach their full potential. Because the condition is so rare, families are encouraged to work closely with a clinical geneticist who can coordinate care and connect them with relevant resources.
Key symptoms:
Distinctive facial featuresJoint stiffness or contracturesSkeletal abnormalitiesIntellectual disabilityDevelopmental delaysGrowth problemsLimb differencesLow muscle toneUnusual head shape or sizeFeeding difficulties in infancy
Clinical phenotype terms (7)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Weaver-Williams syndrome.
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Specialists
View all specialists →No specialists are currently listed for Weaver-Williams 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 Weaver-Williams 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 specific features led to this diagnosis, and could it be another condition?,Should we pursue genetic testing such as whole exome sequencing to look for a cause?,What therapies should we start right away to support my child's development?,How often should we schedule follow-up visits with each specialist?,Are there any complications we should watch for as my child grows?,Can you connect us with other families or support groups for rare syndromes?,What educational resources or early intervention programs are available in our area?
Common questions about Weaver-Williams syndrome
What is Weaver-Williams syndrome?
Weaver-Williams syndrome is an extremely rare genetic condition that affects multiple body systems. It is sometimes referred to by its Orphanet designation (ORPHA:3448) and falls under the broader category of multiple congenital anomaly syndromes. This condition is characterized by a combination of physical differences present at birth, including distinctive facial features, skeletal abnormalities, and developmental delays. Affected individuals may have growth problems, joint contractures (stiffness in the joints), and intellectual disability of varying degrees. Because Weaver-Williams syndro
How is Weaver-Williams syndrome inherited?
Weaver-Williams syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Weaver-Williams syndrome typically begin?
Typical onset of Weaver-Williams syndrome is neonatal. Age of onset can vary across affected individuals.