Overview
Lethal congenital contracture syndrome (LCCS) is a group of very rare and severe inherited conditions that affect a baby before birth. Babies with this condition develop fixed joint positions (called contractures), meaning their arms, legs, and other joints cannot move normally. The condition is caused by problems with the nerves and muscles that control movement during fetal development. Because the baby cannot move properly in the womb, the joints become stiff and locked in place. This is sometimes called fetal akinesia, meaning a lack of fetal movement. There are several subtypes of LCCS (types 1 through 11 and others), each linked to different genes. Common features across the subtypes include severe joint contractures present at birth, underdeveloped muscles, and often underdeveloped lungs. Many affected babies also have a very small jaw (micrognathia), excess fluid around the body (hydrops fetalis), and reduced amniotic fluid or excess amniotic fluid during pregnancy. Sadly, this condition is almost always fatal either before birth or shortly after delivery, primarily because the lungs do not develop enough to support breathing. There is currently no cure or effective treatment for LCCS. Management is focused on supportive and palliative care. Genetic counseling is very important for affected families, especially for understanding the risk in future pregnancies. Prenatal diagnosis through ultrasound and genetic testing can help identify the condition early in pregnancy.
Also known as:
Key symptoms:
Joints locked in fixed positions at birth (contractures)Little or no movement of the baby before birthSeverely underdeveloped musclesUnderdeveloped lungsVery small jawExcess fluid buildup around the baby's body (hydrops)Abnormal amounts of amniotic fluid during pregnancyThin or fragile bonesRounded or puffy facial appearanceShort neck with extra skin foldsAbnormal positioning of fingers and toesSmall body size for gestational ageInability to breathe independently at birth
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventPartner Therapeutics, Inc. — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Lethal congenital contracture syndrome.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Lethal congenital contracture syndrome.
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Caregiver Resources
NORD Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific subtype of lethal congenital contracture syndrome does our baby have, and which gene is involved?,What is the chance this could happen again in a future pregnancy?,Can we do genetic testing before or during a future pregnancy to check for this condition?,Are there palliative care services available to help us and our baby be comfortable?,Should other family members be tested to see if they are carriers?,Can you refer us to a genetic counselor who specializes in this type of condition?,What bereavement and psychological support services are available for our family?
Common questions about Lethal congenital contracture syndrome
What is Lethal congenital contracture syndrome?
Lethal congenital contracture syndrome (LCCS) is a group of very rare and severe inherited conditions that affect a baby before birth. Babies with this condition develop fixed joint positions (called contractures), meaning their arms, legs, and other joints cannot move normally. The condition is caused by problems with the nerves and muscles that control movement during fetal development. Because the baby cannot move properly in the womb, the joints become stiff and locked in place. This is sometimes called fetal akinesia, meaning a lack of fetal movement. There are several subtypes of LCCS (
How is Lethal congenital contracture syndrome inherited?
Lethal congenital contracture syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lethal congenital contracture syndrome typically begin?
Typical onset of Lethal congenital contracture syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Lethal congenital contracture syndrome?
24 specialists and care centers treating Lethal congenital contracture syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.