Overview
Aprosencephaly/atelencephaly spectrum is a very rare and severe brain development condition that is present before birth. In this condition, the front part of the brain — called the prosencephalon or telencephalon — either fails to form at all or forms in a very incomplete way. The brain is one of the most important organs in the body, and when its front sections do not develop properly, it affects nearly every function the body controls, including movement, thinking, breathing, and basic survival. Babies born with this condition typically have a very small or absent forebrain, which means the brain cannot send or receive the signals needed to support normal life. This is different from other brain malformation conditions like holoprosencephaly, where the brain forms but does not divide correctly. In aprosencephaly and atelencephaly, the brain tissue itself is largely missing from the start. Because this condition is so severe, most affected pregnancies end in miscarriage or stillbirth. Babies who are born alive typically survive only for a very short time after birth. There is currently no cure or treatment that can repair the missing brain tissue. Care is focused on keeping the baby comfortable and supporting the family through this very difficult experience. Families are encouraged to work closely with a team of specialists and genetic counselors to understand what happened and what it might mean for future pregnancies.
Also known as:
Key symptoms:
Absent or severely underdeveloped forebrainVery small head size (microcephaly) or abnormal skull shapeAbsence of normal facial features in some casesInability to breathe independentlyNo response to light, sound, or touchAbsence of normal brain activitySeizures in some casesInability to feed or swallowAbnormal or absent reflexesStillbirth or death shortly after birth in most cases
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/atelencephaly spectrum.
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Specialists
View all specialists →No specialists are currently listed for Aprosencephaly/atelencephaly spectrum.
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/atelencephaly spectrum.
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 survival?,Are there any genetic tests we should do to understand why this happened?,What are the chances this could happen again in a future pregnancy?,What does comfort care look like for a baby born with this condition?,Can we meet with a palliative care team before the birth to make a plan?,Are there support groups or counselors who specialize in helping families going through this?,Should we consider an autopsy after birth, and what information could it give us?
Common questions about Aprosencephaly/atelencephaly spectrum
What is Aprosencephaly/atelencephaly spectrum?
Aprosencephaly/atelencephaly spectrum is a very rare and severe brain development condition that is present before birth. In this condition, the front part of the brain — called the prosencephalon or telencephalon — either fails to form at all or forms in a very incomplete way. The brain is one of the most important organs in the body, and when its front sections do not develop properly, it affects nearly every function the body controls, including movement, thinking, breathing, and basic survival. Babies born with this condition typically have a very small or absent forebrain, which means th
How is Aprosencephaly/atelencephaly spectrum inherited?
Aprosencephaly/atelencephaly spectrum follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Aprosencephaly/atelencephaly spectrum typically begin?
Typical onset of Aprosencephaly/atelencephaly spectrum is neonatal. Age of onset can vary across affected individuals.