Overview
Iniencephaly is a very rare and severe birth defect that affects the development of the brain and spine. The name comes from the Greek word 'inion,' meaning the back of the head. In this condition, the back of the skull is incompletely formed, the neck is extremely bent backward, and the spine is severely curved. The brain and spinal cord are often exposed or abnormally positioned. Most babies with iniencephaly also have other serious problems, such as a brain that has not formed properly, organs in the wrong place, or heart and digestive defects. Iniencephaly is considered a type of neural tube defect, which means it happens very early in pregnancy when the neural tube — the structure that becomes the brain and spinal cord — does not close correctly. It is sometimes grouped with other severe neural tube defects like anencephaly and encephalocele. Unfortunately, iniencephaly is almost always fatal. Most affected pregnancies end in miscarriage or stillbirth. Babies born alive typically survive only for a few hours to days. There is no cure or treatment that can correct the underlying defect. Care is focused on comfort and support for the family. Prenatal diagnosis through ultrasound is usually possible, and genetic counseling is strongly recommended for families who have had an affected pregnancy.
Key symptoms:
Extreme backward bending of the head and neckIncomplete formation of the back of the skullSeverely shortened or absent neckExposed or abnormally positioned brain tissueSevere curvature of the spineOrgans in abnormal positions (such as the heart or intestines)Abnormal brain developmentFacial abnormalitiesHeart defectsDigestive tract abnormalitiesInability to move or breathe normally at birth
Clinical phenotype terms (31)— 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 Iniencephaly.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Iniencephaly at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Iniencephaly.
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 Iniencephaly.
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 caused this condition, and is there anything that could have been done to prevent it?,What is the chance that this could happen again in a future pregnancy?,Should I take a higher dose of folic acid before my next pregnancy?,Are there any genetic tests I or my partner should have to better understand the risk?,What support services are available for our family during and after this pregnancy?,What are our options for this pregnancy, and what does palliative care look like for our baby?,Should we consider an autopsy or additional testing after delivery to learn more?
Common questions about Iniencephaly
What is Iniencephaly?
Iniencephaly is a very rare and severe birth defect that affects the development of the brain and spine. The name comes from the Greek word 'inion,' meaning the back of the head. In this condition, the back of the skull is incompletely formed, the neck is extremely bent backward, and the spine is severely curved. The brain and spinal cord are often exposed or abnormally positioned. Most babies with iniencephaly also have other serious problems, such as a brain that has not formed properly, organs in the wrong place, or heart and digestive defects. Iniencephaly is considered a type of neural t
How is Iniencephaly inherited?
Iniencephaly follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Iniencephaly typically begin?
Typical onset of Iniencephaly is neonatal. Age of onset can vary across affected individuals.