Living with Lethal congenital contracture syndrome
A genetic condition in which joints are stiff and fixed in a bent or straight position from birth.
Understanding Lethal congenital contracture syndrome
The contractures can involve the arms, the legs, or the spine. They limit how much joints can bend or straighten, and they are seen at birth.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes joint contractures present at birth.
- Joint contractures in arms or legs
- Contractures of the spine
- Limited joint bending or straightening
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
It is caused by changes in genes. GARD does not name a specific gene or inheritance pattern for this general listing.
Also known as: lccs
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 Lethal congenital contracture syndrome.
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