Overview
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome is an extremely rare and severe genetic condition that affects a baby's development before birth. This syndrome is characterized by three main features: severe intrauterine growth restriction (meaning the baby grows very poorly in the womb), brain malformations (specifically abnormalities in the outer layer of the brain called the cortex, classified under lissencephaly or similar cortical development problems), and congenital contractures (joints that are stiff and fixed in position at birth, sometimes called arthrogryposis). The condition is described as lethal, meaning affected babies typically do not survive long after birth or may be stillborn. Additional features can include a very small head size (microcephaly), abnormal facial features, and underdevelopment of multiple organ systems. Because of the severity of this condition, it is usually identified during pregnancy through ultrasound findings showing poor fetal growth, reduced movement, and brain abnormalities. The treatment landscape is extremely limited due to the lethal nature of the disease, and care is primarily focused on supportive and palliative measures. Genetic counseling is an important part of management for affected families, particularly regarding the risk of recurrence in future pregnancies.
Also known as:
Key symptoms:
Severe poor growth before birthVery small body size at birthBrain malformations affecting the brain surfaceVery small head sizeStiff and fixed joints at birthReduced fetal movement during pregnancyAbnormal facial featuresSeizuresSevere intellectual disabilityBreathing difficulties at birthUnderdeveloped lungsFeeding difficultiesLow muscle tone or abnormal muscle tone
Clinical phenotype terms (24)— hover any for plain English
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)
Treatments
No FDA-approved treatments are currently listed for Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome.
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Specialists
View all specialists →No specialists are currently listed for Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome.
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 intrauterine growth restriction-cortical malformation-congenital contractures syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific brain and body abnormalities have been found in our baby?,Is genetic testing available to identify the exact cause of this condition?,What is the expected outcome for our baby after birth?,What palliative care and comfort measures will be available?,What is the chance this could happen again in a future pregnancy?,Are there options for prenatal testing in future pregnancies?,Can you connect us with bereavement support or counseling services?
Common questions about Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
What is Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome?
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome is an extremely rare and severe genetic condition that affects a baby's development before birth. This syndrome is characterized by three main features: severe intrauterine growth restriction (meaning the baby grows very poorly in the womb), brain malformations (specifically abnormalities in the outer layer of the brain called the cortex, classified under lissencephaly or similar cortical development problems), and congenital contractures (joints that are stiff and fixed in position at birth, sometime
How is Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome inherited?
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome typically begin?
Typical onset of Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome is neonatal. Age of onset can vary across affected individuals.