Overview
Aprosencephaly is an extremely rare and severe brain malformation that occurs before birth. In this condition, the part of the brain called the prosencephalon — which normally develops into the forebrain — either fails to form or is almost completely absent. This means the brain structures responsible for thinking, movement, sensation, and basic body functions do not develop properly. The condition is sometimes grouped with a related disorder called atelencephaly, and together these are among the most severe brain formation defects known. Babies born with aprosencephaly typically have a very small or abnormally shaped head (microcephaly), absent or severely underdeveloped brain tissue, and may have abnormal facial features. Because the brain controls nearly every body function, the effects are profound and affect the entire body. Breathing, feeding, and basic reflexes are usually severely impaired. There is currently no cure for aprosencephaly. Care is focused on keeping the baby as comfortable as possible, managing symptoms, and supporting the family. This is called palliative or comfort care. Due to the severity of the brain malformation, most affected babies do not survive beyond the newborn period, though rare cases of longer survival have been reported. Families are encouraged to work closely with a team of specialists and to seek emotional and psychological support.
Key symptoms:
Absent or severely underdeveloped forebrainVery small head size (microcephaly)Abnormal or absent brain structures visible on imagingSevere feeding difficultiesBreathing problemsLittle or no response to stimulationAbnormal facial featuresSeizuresAbsence of normal newborn reflexesInability to regulate body temperature
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Aprosencephaly.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Aprosencephaly at this time.
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Specialists
View all specialists →No specialists are currently listed for Aprosencephaly.
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 Aprosencephaly.
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 exactly is missing or abnormal in my baby's brain, and what does that mean for their care?,What comfort care options are available, and what can we do to keep our baby free from pain?,Is there a genetic cause that has been identified, and what does that mean for future pregnancies?,Should we see a genetic counselor, and what testing do you recommend for our family?,What signs should prompt us to seek emergency care?,Are there any support groups or organizations that can help our family through this?,What does the expected course look like, and how can we best prepare?
Common questions about Aprosencephaly
What is Aprosencephaly?
Aprosencephaly is an extremely rare and severe brain malformation that occurs before birth. In this condition, the part of the brain called the prosencephalon — which normally develops into the forebrain — either fails to form or is almost completely absent. This means the brain structures responsible for thinking, movement, sensation, and basic body functions do not develop properly. The condition is sometimes grouped with a related disorder called atelencephaly, and together these are among the most severe brain formation defects known. Babies born with aprosencephaly typically have a very
How is Aprosencephaly inherited?
Aprosencephaly follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Aprosencephaly typically begin?
Typical onset of Aprosencephaly is neonatal. Age of onset can vary across affected individuals.