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ORPHA:85284

BRESEK syndrome

medium confidenceDisorder

Also known as: BRESHECK syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.

Publications

51

40.9th percentile

Trials

—

Interventional, condition-specific

Researchers

415

Distinct authors in sample

Gene link

—

Readiness

2/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    51 matched papers (30 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Cryptorchidism; Low-set ears; Protruding ear) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

28

Associated phenotypes · MONDO:0019414

  • Cryptorchidism
  • Low-set ears
  • Protruding ear
  • Optic nerve hypoplasia
  • Iris coloboma

Showing 5 of 28 — 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?

51

51 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=3967) is 59.

51 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).

30 in the last 10 years · medium confidence · 40.9th percentile (publications denominator)

Phrase hits: 47 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Malik 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
  2. 02
    Jovanovic 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
  3. 03
    Marini 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
  4. 04
    Ahmad W2 papers · 2026

    Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

    Papers in Europe PMC
  5. 05
    Arnbjörnsson E2 papers · 2019

    Department of Clinical Sciences, Lund University, Lund, Sweden.

    Papers in Europe PMC
  6. 06
    Fischer J2 papers · 2023

    University of Freiburg Faculty of Medicine Freiburg Deutschland.

    Papers in Europe PMC
  7. 07
    Giunta 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
  8. 08
    Granéli C2 papers · 2019

    Department of Clinical Sciences, Lund University, Lund, Sweden.

    Papers in Europe PMC
  9. 09
    Jan A2 papers · 2024

    Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

    Papers in Europe PMC
  10. 10
    Kelsell 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 11 September 2026 · last trial check 28 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.

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 2026-07-30

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 BRESEK syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia") OR ("BRESEK" OR "BRESEK-related")

Run this search on Europe PMC

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%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