Overview
Atelencephaly is an extremely rare and severe brain malformation that is present from birth. The word 'atelencephaly' means the absence or near-complete absence of the telencephalon, which is the largest part of the brain responsible for thinking, movement, sensation, and personality. In babies born with this condition, the front part of the brain simply did not develop properly during pregnancy. This is sometimes grouped with a related condition called aprosencephaly, where a broader portion of the developing brain fails to form. Because the brain is so severely underdeveloped, babies with atelencephaly typically have profound neurological problems from birth. These include a very small head (microcephaly), absence of normal brain structures, and an inability to perform basic functions. The condition is almost always fatal, either before birth or very shortly after. There is no cure, and treatment focuses entirely on keeping the baby comfortable and supporting the family through this devastating diagnosis. Families are encouraged to work closely with a team of specialists including neurologists, neonatologists, and palliative care providers.
Also known as:
Key symptoms:
Severely underdeveloped or absent front part of the brainVery small head size (microcephaly)Absence of normal brain structures visible on imagingInability to breathe independentlyNo normal reflexes or responsesSeizuresAbnormal or absent facial features in some casesProfound intellectual and neurological impairmentInability to feed or swallowLittle to no voluntary movement
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 Atelencephaly.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Atelencephaly at this time.
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Specialists
View all specialists →No specialists are currently listed for Atelencephaly.
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 Atelencephaly.
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 underdeveloped in my baby's brain, and what does that mean for survival?,Is there any chance this could happen again in a future pregnancy, and should we have genetic testing?,What comfort care options are available for my baby after birth?,Are there any support groups or counselors who specialize in helping families going through this?,Should we consider a fetal MRI to get more detailed information before birth?,What decisions will we need to make about life support, and how can we prepare for those conversations?,Can an autopsy or additional testing after birth help us understand why this happened?
Common questions about Atelencephaly
What is Atelencephaly?
Atelencephaly is an extremely rare and severe brain malformation that is present from birth. The word 'atelencephaly' means the absence or near-complete absence of the telencephalon, which is the largest part of the brain responsible for thinking, movement, sensation, and personality. In babies born with this condition, the front part of the brain simply did not develop properly during pregnancy. This is sometimes grouped with a related condition called aprosencephaly, where a broader portion of the developing brain fails to form. Because the brain is so severely underdeveloped, babies with a
How is Atelencephaly inherited?
Atelencephaly follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Atelencephaly typically begin?
Typical onset of Atelencephaly is neonatal. Age of onset can vary across affected individuals.