Living with Stüve-Wiedemann syndrome 1
A condition present from birth with bowed leg bones and trouble with automatic body functions like feeding and body temperature.
Understanding Stüve-Wiedemann syndrome 1
The autonomic nervous system controls automatic body processes such as breathing rate and body temperature. It is apparent from birth. Key features are bowed leg bones, feeding and swallowing problems, and episodes of dangerously high body temperature. Babies may also have bowed arms, permanently bent fingers and toes, and stiff elbows and knees. As children grow, leg bowing worsens and they may develop a curved spine and easily broken bones.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bowed leg bones
- Feeding and swallowing trouble
- Episodes of high body temperature
- Breathing problems
- Stiff, bent joints (contractures)
- Heavy sweating or less ability to feel pain
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.
- 3Consider genetic testing
Changes in LIFR 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
- 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 Malignant Hyperthermia Association of the United States
- 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
Changes in the LIFR gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: neonatal schwartz-jampel syndrome; schwartz-jampel syndrome neonatal; schwartz-jampel syndrome type 2; schwartz-jampel syndrome, neonatal; sjs2; stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome
Patient organizations
- Malignant Hyperthermia Association of the United StatesStüve-Wiedemann syndrome 1 · United States
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