Living with Weismann-Netter syndrome
A rare genetic bone condition, present from birth, with bowed leg bones, short stature, and other bone differences.
Understanding Weismann-Netter syndrome
The shin and calf bones (tibia and fibula) bow and thicken. People are short in height and may have a curved spine, a tilted tailbone, and other bone differences. Walking often starts later than usual. Signs are present at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bowed shin and calf bones
- Bowed thigh bones
- Severe short stature
- Curved spine (scoliosis or kyphosis)
- Squared hip bones
- Intellectual disability
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 rare disease patient organizations for support
- 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
GARD says changes in genes (variants) cause this condition and that it is autosomal dominant. A child can get it from one parent with the changed gene.
Also known as: anterior bowing of legs with dwarfism; toxopachyosteose diaphysaire tibio-peroniere; weismann netter stuhl syndrome; weismann netter syndrome; weismann-netter-stuhl syndrome; wns
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Weismann-Netter syndrome.
Explore research for Weismann-Netter syndrome
Explore actively recruiting Weismann-Netter syndrome studies with HealthSpark.
Find actively recruiting studies for Weismann-Netter 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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