What is Open iniencephaly?
Open iniencephaly is an extremely rare and lethal neural tube defect characterized by a combination of occipital bone defects (enlarged foramen magnum), rachischisis (open spinal defect) of the cervical and often thoracic vertebrae, and extreme retroflexion (backward bending) of the head and spine. The term 'open' distinguishes this form from 'closed' iniencephaly (iniencephaly clausus), as in open iniencephaly there is an associated encephalocele or anencephaly-like open cranial defect in addition to the spinal rachischisis. The condition results in a dramatically shortened and malformed spine, with the face directed upward and the scalp directly continuous with the skin of the back due to the absence of a discernible neck. Open iniencephaly primarily affects the central nervous system and the musculoskeletal system, particularly the skull base and vertebral column. Associated anomalies are common and may include diaphragmatic hernia, cardiovascular malformations, gastrointestinal defects, and genitourinary anomalies. The brain is typically severely malformed. The condition is almost invariably fatal, with most affected pregnancies resulting in stillbirth or death shortly after birth. There is a notable female predominance among affected cases. Diagnosis is typically made prenatally through ultrasound, which reveals the characteristic fixed retroflexion of the fetal head and spine, or at birth. There is no curative treatment for open iniencephaly. Management is supportive and palliative, and genetic counseling is recommended for affected families. Folic acid supplementation before and during early pregnancy may reduce the risk of neural tube defects in general, though the specific etiology of iniencephaly remains poorly understood and is likely multifactorial.
- Inheritance
- Multifactorial
- Caused by a mix of several genes and environmental factors
- Age of Onset
- Neonatal
- Begins at or shortly after birth (first 4 weeks)
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Open iniencephaly.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for Open iniencephaly at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for Open iniencephaly.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Open iniencephaly.
Community
No community posts yet. Be the first to share your experience with Open iniencephaly.
Start the conversation →Latest news about Open iniencephaly
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for Open iniencephaly.
Follow this condition to be notified when news becomes available.
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.
Common questions about Open iniencephaly
What is Open iniencephaly?
Open iniencephaly is an extremely rare and lethal neural tube defect characterized by a combination of occipital bone defects (enlarged foramen magnum), rachischisis (open spinal defect) of the cervical and often thoracic vertebrae, and extreme retroflexion (backward bending) of the head and spine. The term 'open' distinguishes this form from 'closed' iniencephaly (iniencephaly clausus), as in open iniencephaly there is an associated encephalocele or anencephaly-like open cranial defect in addition to the spinal rachischisis. The condition results in a dramatically shortened and malformed spin
How is Open iniencephaly inherited?
Open iniencephaly follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Open iniencephaly typically begin?
Typical onset of Open iniencephaly is neonatal. Age of onset can vary across affected individuals.
Frequently asked questions about Open iniencephaly
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Open iniencephaly?
Open iniencephaly is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:268363). It is typically inherited as multifactorial. Age of onset is generally neonatal. For verified primary sources, see the UniteRare Open iniencephaly page.
How is Open iniencephaly inherited?
Open iniencephaly follows multifactorial inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for Open iniencephaly?
Approved treatments for Open iniencephaly are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for Open iniencephaly?
Active clinical trials for Open iniencephaly are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for Open iniencephaly?
Verified Open iniencephaly specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full Open iniencephaly page for complete clinical details, sources, and verified-specialist listings.
Cite this page
Select a citation format above to view and copy.