Living with Lethal congenital contracture syndrome 2
A rare inherited condition with joint contractures, a small jaw, and loss of nerve cells that control muscles.
Understanding Lethal congenital contracture syndrome 2
Elbows are typically extended and knees flexed. Other features include a small jaw, loss of nerve cells that move muscles, muscle wasting mainly in the legs, and a very full bladder. Some people have a cleft palate, facial weakness, or eye differences.
Signs & symptoms
GARD doesn't list common symptoms. Its summary and uncommon list mention these features:
- Multiple joint contractures
- Small lower jaw (micrognathia)
- Muscle wasting, mainly in the legs
- Very full, stretched bladder
- Cleft palate or facial weakness
- Hole in the heart wall (ventricular septal defect)
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 ERBB3 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 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 the ERBB3 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: erbb3 lethal congenital contracture syndrome; lccs2; lethal congenital contractural syndrome 2; lethal congenital contracture syndrome caused by mutation in erbb3; lethal congenital contracture syndrome type 2; multiple contracture syndrome israeli-bedouin type
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 2.
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