Overview
Fatal infantile encephalopathy-pulmonary hypertension syndrome is an extremely rare and severe genetic condition that affects the brain and lungs of newborns and young infants. The disease is caused by mutations in the FOXRED1 gene, which plays an important role in the function of mitochondria — the tiny energy-producing structures inside our cells. When mitochondria do not work properly, organs that need a lot of energy, such as the brain and heart, are especially affected. Babies with this condition typically develop serious brain disease (encephalopathy) very early in life, along with high blood pressure in the blood vessels of the lungs (pulmonary hypertension). The brain involvement leads to problems such as seizures, poor muscle tone, feeding difficulties, and failure to reach developmental milestones. The pulmonary hypertension puts strain on the heart and makes it harder for the body to get enough oxygen. Unfortunately, this condition is very severe and currently there is no cure. Treatment is supportive, meaning doctors focus on managing symptoms such as seizures and breathing difficulties, and providing comfort care. Because the disease affects mitochondrial energy production, it falls within the broader group of mitochondrial complex I deficiency disorders. Research into mitochondrial diseases is ongoing, but effective treatments for this specific syndrome remain unavailable at this time.
Key symptoms:
Severe brain dysfunction (encephalopathy)High blood pressure in the lungs (pulmonary hypertension)SeizuresPoor muscle tone (floppiness)Feeding difficultiesFailure to grow and gain weightBreathing problemsFailure to reach developmental milestonesLactic acidosis (buildup of lactic acid in the blood)Lethargy or decreased responsivenessHeart strain due to lung pressure problems
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 Fatal infantile encephalopathy-pulmonary hypertension syndrome.
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Specialists
View all specialists →No specialists are currently listed for Fatal infantile encephalopathy-pulmonary hypertension 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 Fatal infantile encephalopathy-pulmonary hypertension 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 is the expected course of this disease for my baby?,What supportive treatments are available to keep my baby comfortable?,Are there any clinical trials or experimental treatments we should know about?,What should we do if our baby has a seizure at home?,Can you refer us to a palliative care team for additional support?,What are the chances of this happening again in a future pregnancy, and what genetic testing is available for family planning?,Are there any specialists or centers with experience in mitochondrial diseases that we should consult?
Common questions about Fatal infantile encephalopathy-pulmonary hypertension syndrome
What is Fatal infantile encephalopathy-pulmonary hypertension syndrome?
Fatal infantile encephalopathy-pulmonary hypertension syndrome is an extremely rare and severe genetic condition that affects the brain and lungs of newborns and young infants. The disease is caused by mutations in the FOXRED1 gene, which plays an important role in the function of mitochondria — the tiny energy-producing structures inside our cells. When mitochondria do not work properly, organs that need a lot of energy, such as the brain and heart, are especially affected. Babies with this condition typically develop serious brain disease (encephalopathy) very early in life, along with high
How is Fatal infantile encephalopathy-pulmonary hypertension syndrome inherited?
Fatal infantile encephalopathy-pulmonary hypertension syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Fatal infantile encephalopathy-pulmonary hypertension syndrome typically begin?
Typical onset of Fatal infantile encephalopathy-pulmonary hypertension syndrome is neonatal. Age of onset can vary across affected individuals.