ORPHA:63862
Schisis association
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
35
35 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
35 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
6 in the last 10 years · high confidence · 24.3th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
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.
Who's working on it?
141
Distinct author names in 35 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.
- 01Czeizel A4 papers · 1994Papers in Europe PMC
- 02Bohîlțea RE2 papers · 2021
Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Papers in Europe PMC - 03Czeizel AE2 papers · 2005
Department of Human Genetics and Teratology, National Institute of Hygiene, Budapest, Hungary.
Papers in Europe PMC - 04Gheorghe CM2 papers · 2021
Department of Marketing and Medical Technology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Papers in Europe PMC - 05Métneki J2 papers · 1984Papers in Europe PMC
- 06Spitz L2 papers · 2007
Department of Paediatric Surgery, Institute of Child Health, University College, London, UK. lspitz@ich.ucl.ac.uk
Papers in Europe PMC - 07Varlas V2 papers · 2021
Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Papers in Europe PMC - 08Adrian Dumitru V1 paper · 2021
Department of Pathology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Papers in Europe PMC - 09Agopian AJ1 paper · 2019
Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas.
Papers in Europe PMC - 10Akgun H1 paper · 2013Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"Schisis association"
MeSH descriptor terms unioned into the query: Schisis association
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Schisis association"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C536633 UMLS:C2931271
Query health: suspect — strategies attempted: phrase, mesh; 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