Overview
W syndrome is an extremely rare genetic condition that affects multiple body systems. It was first described in the medical literature and is named after the initial letter of the surname of the family in which it was originally identified. The syndrome is characterized by a combination of features including intellectual disability, distinctive facial features, and skeletal abnormalities. Affected individuals may have a broad or flat nasal bridge, widely spaced eyes, and other facial differences. Skeletal problems can include short stature and abnormalities of the bones in the hands and feet. Some individuals may also have hearing loss and eye abnormalities. Because W syndrome is so rare, with only a handful of cases reported in the medical literature, knowledge about the full range of symptoms and the best approaches to treatment remains limited. There is currently no cure for W syndrome. Treatment focuses on managing individual symptoms and may involve a team of specialists. Early intervention services, including speech therapy, physical therapy, and special education support, can help affected children reach their full potential. Regular monitoring by healthcare providers is important to address any new symptoms that may arise over time.
Also known as:
Key symptoms:
Intellectual disabilityShort statureDistinctive facial featuresWidely spaced eyesBroad or flat nasal bridgeBone and skeletal abnormalitiesAbnormalities of the hands or feetHearing lossEye abnormalitiesDelayed developmentSpeech difficulties
Clinical phenotype terms (25)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
2 eventsUniversity of Maryland, Baltimore
Stanford University — PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for W syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for W syndrome at this time.
New trials open frequently. Follow this disease to get notified.
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 W syndrome.
Community
No community posts yet. Be the first to share your experience with W syndrome.
Start the conversation →Latest news about W syndrome
Disease timeline:
New recruiting trial: Reduced Intensity Allogeneic HCT in Advanced Hematologic Malignancies w/T-Cell Depleted Graft
A new clinical trial is recruiting patients for W syndrome
New recruiting trial: 2177GCCC:ID'Ing tx Targets and Biomarkers for Ocular Surface Disease in Pt w/ oGVHD
A new clinical trial is recruiting patients for W syndrome
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 of my child's condition led to the diagnosis of W syndrome?,Is genetic testing available that could confirm the diagnosis or identify the specific gene involved?,What therapies and early intervention services do you recommend?,How often should my child have hearing and vision screenings?,Are there any skeletal issues we should monitor, and will my child need orthopedic care?,What is the expected developmental outlook for my child?,Can you refer us to a genetic counselor to discuss family planning and recurrence risk?
Common questions about W syndrome
What is W syndrome?
W syndrome is an extremely rare genetic condition that affects multiple body systems. It was first described in the medical literature and is named after the initial letter of the surname of the family in which it was originally identified. The syndrome is characterized by a combination of features including intellectual disability, distinctive facial features, and skeletal abnormalities. Affected individuals may have a broad or flat nasal bridge, widely spaced eyes, and other facial differences. Skeletal problems can include short stature and abnormalities of the bones in the hands and feet.
How is W syndrome inherited?
W syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does W syndrome typically begin?
Typical onset of W syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat W syndrome?
23 specialists and care centers treating W syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.