Overview
Wiedemann-Steiner syndrome (WSS) is a rare genetic condition that affects many parts of the body. It is caused by changes (mutations) in the KMT2A gene, which plays an important role in how genes are turned on and off during development. The syndrome was first described by doctors Wiedemann and Steiner, and it is sometimes referred to by the abbreviation WSS. People with Wiedemann-Steiner syndrome typically have intellectual disability that ranges from mild to moderate, delayed development (such as late walking or talking), short stature, and distinctive facial features. These facial features may include thick eyebrows, long eyelashes, wide-set eyes, a broad nasal bridge, and a thin upper lip. A hallmark feature is excessive hair growth (hypertrichosis), especially on the elbows, though this is not present in every person. Some individuals may also have low muscle tone, feeding difficulties in infancy, and behavioral challenges. There is currently no cure for Wiedemann-Steiner syndrome. Treatment focuses on managing individual symptoms and supporting development. This may include speech therapy, occupational therapy, physical therapy, and special education services. Early intervention programs can make a meaningful difference in a child's progress. Regular follow-up with a team of specialists helps ensure that medical issues such as heart defects, vision problems, or skeletal differences are identified and treated promptly.
Key symptoms:
Intellectual disability (mild to moderate)Delayed speech and language developmentDelayed motor milestones like walkingShort statureLow muscle tone (feeling floppy)Excessive hair growth, especially on the elbowsThick eyebrows and long eyelashesWide-set eyesBroad or flat nasal bridgeFeeding difficulties in infancyBehavioral challenges such as anxiety or ADHD-like symptomsSmall hands and feetConstipationVision problems such as lazy eye or farsightednessOccasional heart defects
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 Wiedemann-Steiner syndrome.
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Specialists
View all specialists →No specialists are currently listed for Wiedemann-Steiner 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 Wiedemann-Steiner 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 KMT2A mutation does my child have, and does it tell us anything about what to expect?,What therapies should we start right away, and how often should they occur?,Should my child have a heart evaluation or other organ screening?,What educational supports and accommodations should we request at school?,Is there a risk that future children could also have this condition?,Are there any clinical trials or research studies we should know about?,What specialists should be part of my child's care team, and how often should we see them?
Common questions about Wiedemann-Steiner syndrome
What is Wiedemann-Steiner syndrome?
Wiedemann-Steiner syndrome (WSS) is a rare genetic condition that affects many parts of the body. It is caused by changes (mutations) in the KMT2A gene, which plays an important role in how genes are turned on and off during development. The syndrome was first described by doctors Wiedemann and Steiner, and it is sometimes referred to by the abbreviation WSS. People with Wiedemann-Steiner syndrome typically have intellectual disability that ranges from mild to moderate, delayed development (such as late walking or talking), short stature, and distinctive facial features. These facial features
How is Wiedemann-Steiner syndrome inherited?
Wiedemann-Steiner syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Wiedemann-Steiner syndrome typically begin?
Typical onset of Wiedemann-Steiner syndrome is infantile. Age of onset can vary across affected individuals.