Living with Lethal congenital contracture syndrome 11
A rare inherited condition with joint contractures, small lungs, and a small jaw present at birth.
Understanding Lethal congenital contracture syndrome 11
A contracture means a joint is permanently fixed in a bent or straight position. It has been described in only a few people. Features include contractures in the arms and legs, very small lungs, a small recessed lower jaw, bent fingers and toes, and clubfoot on both sides. Ultrasound before birth may show a baby who does not move.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bent fingers (flexion contracture)
- Extra amniotic fluid (polyhydramnios)
- Reduced fetal movement
- Small lungs (pulmonary hypoplasia)
- Clubfoot on both sides
- Small, recessed lower jaw (retrognathia)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 GLDN gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: gldn lethal congenital contracture syndrome; lccs11; lethal congenital contracture syndrome 11; lccs11; lethal congenital contracture syndrome caused by mutation in gldn; lethal congenital contracture syndrome type 11
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 11.
Explore research for Lethal congenital contracture syndrome 11
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