Overview
NDE1-related microhydranencephaly is a very rare and severe brain development disorder caused by changes (mutations) in the NDE1 gene. The condition is also sometimes referred to as NDE1-associated microcephaly or microhydranencephaly with severe brain malformation. In this disease, the brain does not develop properly before birth. The brain is extremely small (a condition called microcephaly) and much of the normal brain tissue is replaced by fluid-filled spaces. This happens because the cells that are supposed to build the brain do not divide and grow the way they should during pregnancy. Babies born with this condition typically have a very small head, little to no brain tissue in the areas responsible for thinking and movement, and severe neurological problems from birth. Common symptoms include profound intellectual disability, little or no ability to move voluntarily, difficulty swallowing, seizures, and very limited awareness of the surrounding world. Most affected children require full-time care for all daily needs. There is currently no cure for NDE1-related microhydranencephaly. Treatment focuses on managing symptoms, keeping the child comfortable, preventing complications like infections or aspiration, and supporting the family. A team of specialists is usually needed to provide the best possible care.
Also known as:
Key symptoms:
Extremely small head size (severe microcephaly)Large fluid-filled spaces replacing brain tissueProfound intellectual disabilityLittle or no voluntary movementSeizures (epilepsy)Difficulty swallowing (dysphagia)Feeding problems requiring tube feedingSpastic or stiff musclesVery limited or absent response to surroundingsPoor or absent visionPoor or absent hearing responsesBreathing difficultiesFailure to reach developmental milestones
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 NDE1-related microhydranencephaly.
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Specialists
View all specialists →No specialists are currently listed for NDE1-related microhydranencephaly.
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 NDE1-related microhydranencephaly.
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 does my child's brain MRI show, and what does that mean for their day-to-day life?,What genetic testing is recommended, and should other family members be tested?,What is the risk of this happening again in a future pregnancy, and are there options for prenatal testing?,What seizure medications are most appropriate, and what should I do if a seizure does not stop?,Does my child need a feeding tube, and how do I care for it safely at home?,What therapies or support programs are available to help my child and our family?,Should we involve a palliative care team, and what can they offer us?
Common questions about NDE1-related microhydranencephaly
What is NDE1-related microhydranencephaly?
NDE1-related microhydranencephaly is a very rare and severe brain development disorder caused by changes (mutations) in the NDE1 gene. The condition is also sometimes referred to as NDE1-associated microcephaly or microhydranencephaly with severe brain malformation. In this disease, the brain does not develop properly before birth. The brain is extremely small (a condition called microcephaly) and much of the normal brain tissue is replaced by fluid-filled spaces. This happens because the cells that are supposed to build the brain do not divide and grow the way they should during pregnancy. B
How is NDE1-related microhydranencephaly inherited?
NDE1-related microhydranencephaly follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does NDE1-related microhydranencephaly typically begin?
Typical onset of NDE1-related microhydranencephaly is neonatal. Age of onset can vary across affected individuals.