ORPHA:85284
BRESEK syndrome
Also known as: BRESHECK syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Publications
47
43.1th percentile
Trials
—
Interventional, condition-specific
Researchers
415
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic, multiple syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), , ectodermal , skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney /hypoplasia. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome.
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:0019414
- MeSH:C564519
- UMLS:C3502469
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
47 matched papers (29 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 checked
Trial fetch failed or incomplete
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?
47
47 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=5449) is 41.
47 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).
29 in the last 10 years · medium confidence · 43.1th percentile (publications denominator)
Phrase hits: 47 · MeSH hits: 0
Who's working on it?
415
Distinct author names in 47 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Malik S4 papers · 2026
Division of Neonatology, Department of Pediatrics, T.N. Medical College & B.Y.L Nair Hospital, Block no 3, Flat no 7, Brady's Flats, Sorab Bharucha Road, Colaba, Mumbai, 400005, India. sushmamalik@gmail.com.
Papers in Europe PMC - 02Jovanovic M3 papers · 2024
Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 03Marini JC3 papers · 2024
Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
Papers in Europe PMC - 04Ahmad W2 papers · 2026
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Papers in Europe PMC - 05Arnbjörnsson E2 papers · 2019
Department of Clinical Sciences, Lund University, Lund, Sweden.
Papers in Europe PMC - 06Fischer J2 papers · 2023
University of Freiburg Faculty of Medicine Freiburg Deutschland.
Papers in Europe PMC - 07Giunta C2 papers · 2023
Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital Zurich, Zurich 8032, Switzerland.
Papers in Europe PMC - 08Granéli C2 papers · 2019
Department of Clinical Sciences, Lund University, Lund, Sweden.
Papers in Europe PMC - 09Jan A2 papers · 2024
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Papers in Europe PMC - 10Kelsell DP2 papers · 2026
Centre for Cutaneous Research, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London E1 2AT, UK. d.p.kelsell@qmul.ac.uk.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 27 July 2026
medium confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
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.
"BRESEK syndrome" OR "BRESHECK syndrome"
MeSH descriptor terms unioned into the query: Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22BRESEK%20syndrome%22%20OR%20%22BRESHECK%20syndrome%22%20OR%20%22Brain%20Anomalies%2C%20Retardation%2C%20Ectodermal%20Dysplasia%2C%20Skeletal%20Malformations%2C%20Hirschsprung%20Disease%2C%20Ear-Eye%20Anomalies%2C%20Cleft%20Palate-Cryptorchidism%2C%20And%20Kidney%20Dysplasia-Hypoplasia%22&format=json&pageSize=100&countTotal=true
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 2026-07-27T02:52:29.816Z