ORPHA:799
Schizencephaly
Publications
3,965
90.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,260
Distinct authors in sample
Gene link
EMX2
Moderate
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as , motor deficits, and psychomotor retardation.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010011
- MeSH:D065707
- OMIM:269160
- UMLS:C0266484
- NCIT:C99056
Additional Mondo synonyms (1)
schizencephaly
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.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Moderate — EMX2
- LiteraturePresent
3,965 matched papers (2,146 in last 10 years) Source
- Phenotype characterisedPresent
13 HPO annotations (e.g. EEG abnormality; Seizure; Porencephalic cyst) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Probably — there is moderate evidence for EMX2.
GenCC classification: Moderate.
Phenotypes (Monarch / HPO)
13
Associated phenotypes · MONDO:0010011
- EEG abnormality
- Seizure
- Porencephalic cyst
- Strabismus
- Spasticity
Showing 5 of 13 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
3,965
3,965 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=3967) is 59.
3,965 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
2,146 in the last 10 years · medium confidence · 90.7th percentile (publications denominator)
Phrase hits: 1,665 · MeSH hits: 0
Who's working on it?
1,260
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.
- 01Wang S5 papers · 2025
Department of Neurology, Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China.
Papers in Europe PMC - 02Wang X5 papers · 2026
Biostatistics Epidemiology and Analytics in Research (BEAR), Seattle Children's Research Institute, Seattle, WA, United States.
Papers in Europe PMC - 03Agarwal S3 papers · 2026
MBBS Student, 3rd Professional Year Part 2, R.G. Kar Medical College and Hospital, Kolkata, West Bengal, India.
Papers in Europe PMC - 04Gano D3 papers · 2025
Departments of Neurology & Pediatrics, University of California San Francisco, San Francisco, California.
Papers in Europe PMC - 05Glenn OA3 papers · 2025
Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, California.
Papers in Europe PMC - 06Lamichhane S3 papers · 2026
BP Koirala Institute of Health Sciences Dharan Nepal.
Papers in Europe PMC - 07Liu Y3 papers · 2025
Medical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Papers in Europe PMC - 08Norton ME3 papers · 2025
Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California San Francisco, San Francisco, California.
Papers in Europe PMC - 09Park SH3 papers · 2021
Department of Physical Medicine and Rehabilitation, Chonbuk National University Hospital, Jeonju, South Korea.
Papers in Europe PMC - 10Severino M3 papers · 2026
Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Schizencephaly — check Associations / patient organisations on that page.
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.
("Schizencephaly") OR ("EMX2" OR "EMX2 syndrome" OR "EMX2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Schizencephaly"
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:24:13.415Z