Living with Wiedemann-Steiner syndrome
A genetic condition with distinctive facial features, slow growth, and intellectual disability, usually from birth or childhood.
Understanding Wiedemann-Steiner syndrome
Facial features may include thick eyebrows, wide-set eyes, and narrow eye openings. People may also have extra hair on the elbows, arms, and back, feeding difficulties, behavior problems, and seizures. Because only a small number of people have been reported, not much is known about how it changes over time.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Slow growth in childhood
- Delayed speech and motor skills
- Thick eyebrows and long eyelashes
- Extra hair on elbows, arms, and back
- Feeding difficulties and low 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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in KMT2A 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
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- 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 Simons Searchlight and other patient organizations
- 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
Wiedemann-Steiner syndrome is caused by changes in the KMT2A gene. Most people are the only one in their family with it. In a few cases it has been inherited in an autosomal dominant pattern.
Also known as: growth deficiency and mental retardation with facial dysmorphism; hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome; hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome; wdsts; wiedemann steiner syndrome
Patient organizations
- Simons SearchlightWiedemann-Steiner syndrome · United States
- Wiedemann-Steiner Syndrome FoundationWiedemann-Steiner syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Wiedemann-Steiner syndrome.
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