Overview
Lethal hydranencephaly-diaphragmatic hernia syndrome is an extremely rare and severe condition that affects babies before or shortly after birth. The name describes two main problems: hydranencephaly, where most of the brain's thinking areas (the cerebral hemispheres) are replaced by fluid-filled sacs instead of normal brain tissue, and a diaphragmatic hernia, where there is a hole or weakness in the diaphragm — the muscle that separates the chest from the belly. This hole allows organs from the abdomen, like the stomach or intestines, to move up into the chest, which can squeeze the developing lungs and make breathing very difficult. Because both the brain and the lungs are severely affected, this condition is considered lethal, meaning babies born with it typically do not survive long after birth. Some pregnancies may end in stillbirth. The combination of these two major problems — a brain that has not formed properly and lungs that cannot work well — means the body cannot support life outside the womb. There is currently no cure or treatment that can reverse the brain or diaphragm problems. Care is focused on keeping the baby comfortable and supporting the family through this very difficult time. Families are encouraged to work closely with a team of specialists and genetic counselors to understand what happened and what it might mean for future pregnancies.
Key symptoms:
Brain mostly replaced by fluid instead of normal brain tissue (hydranencephaly)Hole in the diaphragm allowing abdominal organs into the chest (diaphragmatic hernia)Severe breathing difficulties at birthLittle to no normal brain functionAbnormal head size or shapeAbsent or very weak reflexesInability to breathe independentlyStillbirth or death shortly after 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)
Treatments
No FDA-approved treatments are currently listed for Lethal hydranencephaly-diaphragmatic hernia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Lethal hydranencephaly-diaphragmatic hernia 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 hydranencephaly-diaphragmatic hernia 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
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 caused this condition in our baby, and is there a genetic reason?,What is the chance this could happen again in a future pregnancy?,Should we have genetic testing done, and what type would be most helpful?,What comfort care options are available for our baby after birth?,Are there support groups or counselors who specialize in helping families through this kind of loss?,Should other family members be tested for any genetic changes?,If we want to try for another pregnancy, what monitoring or testing would be recommended?
Common questions about Lethal hydranencephaly-diaphragmatic hernia syndrome
What is Lethal hydranencephaly-diaphragmatic hernia syndrome?
Lethal hydranencephaly-diaphragmatic hernia syndrome is an extremely rare and severe condition that affects babies before or shortly after birth. The name describes two main problems: hydranencephaly, where most of the brain's thinking areas (the cerebral hemispheres) are replaced by fluid-filled sacs instead of normal brain tissue, and a diaphragmatic hernia, where there is a hole or weakness in the diaphragm — the muscle that separates the chest from the belly. This hole allows organs from the abdomen, like the stomach or intestines, to move up into the chest, which can squeeze the developin
How is Lethal hydranencephaly-diaphragmatic hernia syndrome inherited?
Lethal hydranencephaly-diaphragmatic hernia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lethal hydranencephaly-diaphragmatic hernia syndrome typically begin?
Typical onset of Lethal hydranencephaly-diaphragmatic hernia syndrome is neonatal. Age of onset can vary across affected individuals.