Overview
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome is an extremely rare condition that affects a developing baby before birth. It is sometimes referred to by its Orphanet code 444069. This syndrome involves three major problems happening together: a serious malformation of the brain, a blockage in the first part of the small intestine (called duodenal atresia), and underdeveloped kidneys on both sides (bilateral renal hypoplasia). These problems develop during pregnancy and are typically detected before or shortly after birth. Because all three organ systems are severely affected at the same time, this condition is considered lethal, meaning babies affected by it do not survive. The brain malformation prevents normal brain development, the intestinal blockage stops the digestive system from working, and the underdeveloped kidneys cannot filter the body's waste properly. Together, these problems are not compatible with life outside the womb. There is currently no treatment that can cure or reverse this syndrome. Care is focused on supporting families through the diagnosis, providing accurate information, and offering compassionate end-of-life care for affected newborns. Genetic counseling is an important part of care for families who have experienced this condition, to help understand the risk of it happening again in future pregnancies.
Key symptoms:
Severe brain malformation present before birthBlockage of the duodenum (first part of the small intestine), called duodenal atresiaBoth kidneys are smaller than normal and do not work properly (bilateral renal hypoplasia)Abnormal buildup of fluid in the brain (possible hydrocephalus)Reduced or absent urine production by the baby before birthLow amniotic fluid levels during pregnancy (oligohydramnios)Excess amniotic fluid during pregnancy (polyhydramnios, related to the intestinal blockage)Inability to survive outside the womb
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia 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 fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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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 caused this syndrome in our baby, and is there a known genetic reason?,What is the chance this could happen again in a future pregnancy?,What genetic tests should we have done on ourselves or our baby to better understand the cause?,Are there any prenatal tests we should have in a future pregnancy to detect this early?,What support services are available to help our family cope with this loss?,Should we consider an autopsy, and how would that information help us?,Are there any research studies or registries we could participate in to help other families?
Common questions about Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
What is Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome?
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome is an extremely rare condition that affects a developing baby before birth. It is sometimes referred to by its Orphanet code 444069. This syndrome involves three major problems happening together: a serious malformation of the brain, a blockage in the first part of the small intestine (called duodenal atresia), and underdeveloped kidneys on both sides (bilateral renal hypoplasia). These problems develop during pregnancy and are typically detected before or shortly after birth. Because all three organ systems
At what age does Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome typically begin?
Typical onset of Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome is neonatal. Age of onset can vary across affected individuals.