ORPHA:97252
Mega-cisterna magna
Publications
818
91th percentile
Trials
0
Interventional, condition-specific
Researchers
1,528
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, non-syndromic, posterior fossa characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019953
- UMLS:C1853377
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
818 matched papers (568 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
818
818 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
818 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
568 in the last 10 years · high confidence · 91th percentile (publications denominator)
Phrase hits: 818 · MeSH hits: 0
Who's working on it?
1,528
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Houlden H5 papers · 2025
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, UK.
Papers in Europe PMC - 02Maroofian R5 papers · 2025
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, UK.
Papers in Europe PMC - 03Efthymiou S4 papers · 2025
Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.
Papers in Europe PMC - 04Li Y4 papers · 2026
Department of Dermatology, Huashan Hospital of Fudan University, Shanghai, China.
Papers in Europe PMC - 05Alvi JR3 papers · 2025
Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan.
Papers in Europe PMC - 06Gezdirici A3 papers · 2026
Department of Medical Genetics, Başakşehir Çam and Sakura City Hospital, 34480 Istanbul, Turkey.
Papers in Europe PMC - 07Lerman-Sagie T3 papers · 2026
Multidisciplinary Fetal Neurology Center, and Fetal Brain Research Center, Wolfson Medical Center, Holon, Israel.
Papers in Europe PMC - 08Li L3 papers · 2024
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Papers in Europe PMC - 09Liu L3 papers · 2026
Department of Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC - 10Moreno-De-Luca A3 papers · 2023
Department of Radiology, Diagnostic Medicine Institute, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Mega-cisterna magna"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mega-cisterna magna"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T05:04:22.992Z