ORPHA:514352
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Also known as: Serpentine-like syndrome
Publications
11
21.7th percentile
Trials
0
Interventional, condition-specific
Researchers
61
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndromic esophageal characterized by severe brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the or early period.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0034895
- UMLS:C5680208
Additional Mondo synonyms (1)
serpentine-like 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.”
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
11 matched papers (6 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?
11
11 papers have ever been indexed 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=5449) is 41.
11 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).
6 in the last 10 years · high confidence · 21.7th percentile (publications denominator)
Phrase hits: 11 · MeSH hits: 0
Who's working on it?
61
Distinct author names in 11 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.
- 01Clapuyt P2 papers · 2017
Radiology Department, Cliniques Universitaires St. Luc, U.C.L. Brussels.
Papers in Europe PMC - 02Debauche C2 papers · 2017
Neonatalogy Unit, Department of Paediatrics, Cliniques Universitaires St. Luc, U.C.L. Brussels.
Papers in Europe PMC - 03Acero D1 paper · 2024
Pediatric and Neonatal Intensive Care Unit, Children's Hospital Amsterdamer Straße, Cologne, Germany.
Papers in Europe PMC - 04Agarwal S1 paper · 2025
Departments of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.
Papers in Europe PMC - 05Agarwala S1 paper · 2025
Departments of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.
Papers in Europe PMC - 06Bağci O1 paper · 2016Papers in Europe PMC
- 07Beleza-Meireles A1 paper · 2017
Centre de Génétique Humaine, Cliniques Universitaires St. Luc, U.C.L., Brussels; Department of Clinical Genetics, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK. Electronic address: ana.beleza@gstt.nhs.uk.
Papers in Europe PMC - 08Bernard P1 paper · 2017
Obstetrics Department, Cliniques Universitaires St.Luc, U.C.L. Brussels.
Papers in Europe PMC - 09Boemers T1 paper · 2024
Department of Pediatric Surgery & Pediatric Urology, Children's Hospital Amsterdamer Straße, Cologne, Germany.
Papers in Europe PMC - 10Bourke TW1 paper · 2013Papers 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.
"Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome" OR "Serpentine-like syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome" OR "Serpentine-like syndrome"
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 2026-07-27T17:58:19.370Z