Living with Lethal congenital contracture syndrome 1
A rare inherited condition with absent movement before birth, many joint contractures, and small lungs.
Understanding Lethal congenital contracture syndrome 1
Lack of movement (fetal akinesia) can be detected as early as the 13th week of pregnancy. It comes with extra fluid, a small lower jaw, small lungs, skin webs, and joint contractures. Nerve cells that control muscles are lacking in the spinal cord, and muscles are small.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Limited joint movement
- Small lungs (pulmonary hypoplasia)
- Small lower jaw (micrognathia)
- Extra amniotic fluid (polyhydramnios)
- Short or webbed neck
- Muscle wasting
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, genetic specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in GLE1 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); Lung and breathing specialists (pulmonologists)
- 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 GLE1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: gle1 lethal congenital contracture syndrome; herva disease; lccs1; lethal congenital contracture syndrome caused by mutation in gle1; lethal congenital contracture syndrome type 1; multiple contracture syndrome finnish 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 1.
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