Overview
Isolated anencephaly is a very serious birth defect where a baby is born without large parts of the brain, skull, and scalp. The word 'anencephaly' comes from Greek meaning 'without a brain.' In this condition, the neural tube — the structure that forms the brain and spinal cord early in pregnancy — does not close properly during the first few weeks after conception. As a result, the developing brain is exposed and does not form correctly. The cerebral hemispheres, which control thinking, movement, and sensation, are either absent or severely underdeveloped. The brainstem, which controls basic functions like breathing and heart rate, may be partially present. Babies with anencephaly are either stillborn or survive only a short time after birth, usually hours to days. There is no treatment that can repair or replace the missing brain tissue. The condition is detected during pregnancy through routine ultrasound or blood tests. The term 'isolated' means the condition occurs on its own, without other major birth defects or a known genetic syndrome. Anencephaly is one of the most common and most severe neural tube defects.
Key symptoms:
Absence of the top and back of the skullMissing or severely underdeveloped brain tissue (cerebral hemispheres)Exposed brain tissue at the top of the headAbnormal facial features due to skull malformationInability to see, hear, or feel in a conscious wayNo awareness or consciousnessInability to breathe independently for more than a short timeAbsence of normal reflexes in most casesStillbirth or death within hours to days of birth
Clinical phenotype terms (8)— hover any for plain English
Multifactorial
Caused by a mix of several genes and environmental factors
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Isolated anencephaly.
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Specialists
View all specialists →No specialists are currently listed for Isolated anencephaly.
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 Isolated anencephaly.
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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 to happen, and could anything have prevented it?,What are our options now that we have this diagnosis, and what support is available to us?,What will happen at birth, and what does comfort care look like for our baby?,What is the chance this could happen again in a future pregnancy?,Should I take a higher dose of folic acid before my next pregnancy, and when should I start?,Should we have genetic testing to look for an underlying cause?,Are there support groups or counseling services you can connect us with?
Common questions about Isolated anencephaly
What is Isolated anencephaly?
Isolated anencephaly is a very serious birth defect where a baby is born without large parts of the brain, skull, and scalp. The word 'anencephaly' comes from Greek meaning 'without a brain.' In this condition, the neural tube — the structure that forms the brain and spinal cord early in pregnancy — does not close properly during the first few weeks after conception. As a result, the developing brain is exposed and does not form correctly. The cerebral hemispheres, which control thinking, movement, and sensation, are either absent or severely underdeveloped. The brainstem, which controls basic
How is Isolated anencephaly inherited?
Isolated anencephaly follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Isolated anencephaly typically begin?
Typical onset of Isolated anencephaly is neonatal. Age of onset can vary across affected individuals.