ORPHA:1335
Pentalogy of Cantrell
Also known as: Cantrell deformity · Cantrell syndrome · Thoraco-abdominal syndrome
Publications
641
77.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,049
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Pentalogy of Cantrell (POC) is a lethal multiple anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010742
- MeSH:D058502
- OMIM:313850
- UMLS:C0559483
- NCIT:C99011
Additional Mondo synonyms (2)
pentalogy of Cantrell · thoraco-abdominal syndrome
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.”
2/6 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
641 matched papers (330 in last 10 years) Source
- Phenotype characterisedPresent
39 HPO annotations (e.g. Congenital diaphragmatic hernia; Abnormal pericardium morphology; Hydrocephalus) 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
39
Associated phenotypes · MONDO:0010742
- Congenital diaphragmatic hernia
- Abnormal pericardium morphology
- Hydrocephalus
- Encephalocele
- Anencephaly
Showing 5 of 39 — 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?
641
641 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.
641 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).
330 in the last 10 years · high confidence · 77.7th percentile (publications denominator)
Phrase hits: 641 · MeSH hits: 0
Who's working on it?
1,049
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.
- 01Avedillo L5 papers · 2026
Private Practitioner, Clínica Veterinaria Salud Animal, Griñón, Madrid, Spain.
Papers in Europe PMC - 02Martín-Alguacil N5 papers · 2026
Departmental Section of Anatomy and Embryology, School of Veterinary Medicine, Universidad Complutense de Madrid, 28040 Madrid, Spain.
Papers in Europe PMC - 03Araujo Júnior E3 papers · 2025
Tenured Adjunct Professor in the Department of Obstetrics of the Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brazil.
Papers in Europe PMC - 04Chen H3 papers · 2025
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, Guangdong, China.
Papers in Europe PMC - 05Cozar JM3 papers · 2026
Departmental Section of Anatomy and Embryology, School of Veterinary Medicine, Universidad Complutense de Madrid, 28040 Madrid, Spain.
Papers in Europe PMC - 06Wang Y3 papers · 2025
Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA.
Papers in Europe PMC - 07Adam AP2 papers · 2026
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
Papers in Europe PMC - 08Adam MP2 papers · 2026
Divison of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Papers in Europe PMC - 09Agarwal R2 papers · 2026
Eternal Heart Care Center, Jaipur, India; Santokba Durlabhji Memorial Hospital, Jaipur, India.
Papers in Europe PMC - 10Al Namat D2 papers · 2025
"Saint Mary" Emergency Children Hospital, 700309 Iassy, Romania.
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. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
high 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.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 Pentalogy of Cantrell — 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.
"Pentalogy of Cantrell" OR "Pentalogy of the Cantrell" OR "Cantrell deformity" OR "Cantrell syndrome" OR "Thoraco-abdominal syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pentalogy of Cantrell" OR "Pentalogy of the Cantrell" OR "Cantrell deformity" OR "Cantrell syndrome" OR "Thoraco-abdominal syndrome"
Study-type breakdown: 0 interventional · 3 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 2026-07-26T17:05:53.149Z