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ORPHA:2143

Donnai-Barrow syndrome

low confidenceDisorder

Also known as: DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome · Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome · Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome · FOAR syndrome · Facio-oculo-acoustico-renal syndrome · Holmes-Schepens syndrome · Syndrome of ocular and facial anomalies, telecanthus and deafness · Syndrome of ocular and facial anomalies, telecanthus and hearing loss

Publications

7,400

Trials

0

Interventional, condition-specific

Researchers

1,418

Distinct authors in sample

Gene link

LRP2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A multiple syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable . diaphragmatic hernia (CDH) and/or omphalocele are common.

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.

Additional Mondo synonyms (6)

diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria · diaphragmatic hernia-exomphalos-hypertelorism syndrome · diaphragmatic hernia-hypertelorism-myopia-deafness syndrome · facio-oculo-acoustico-renal syndrome · faciooculoacousticorenal syndrome · syndrome of ocular and facial anomalies, telecanthus and deafness

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — LRP2

  2. LiteraturePresent

    7,400 matched papers (4,806 in last 10 years) Source

  3. Phenotype characterisedPresent

    67 HPO annotations (e.g. Broad nasal tip; Infra-orbital crease; Progressive visual loss) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

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

  6. 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?

Yes — we know a specific gene responsible (LRP2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

67

Associated phenotypes · MONDO:0009104

  • Broad nasal tip
  • Infra-orbital crease
  • Progressive visual loss
  • Abnormality of the uterus
  • Macrocephaly

Showing 5 of 67 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

7,400

7,400 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,400 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).

4,806 in the last 10 years · low confidence

Phrase hits: 311 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,418

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.

  1. 01
    Nielsen R7 papers · 2026

    Department of Biomedicine, Aarhus University, Aarhus, Denmark.

    Papers in Europe PMC
  2. 02
    Donahoe PK6 papers · 2026

    Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA. donahoe.patricia@mgh.harvard.edu

    Papers in Europe PMC
  3. 03
    Pober BR6 papers · 2018

    Center for Human Genetics, Massachusetts General Hospital, Boston, MA 02114, USA. pober.barbara@mgh.harvard.edu

    Papers in Europe PMC
  4. 04
    Willnow TE6 papers · 2023

    Molecular Cardiovascular Research, Max-Delbrueck-Center for Molecular Medicine, 13092 Berlin, Germany.

    Papers in Europe PMC
  5. 05
    Christensen EI5 papers · 2023

    Department of Biomedicine, Aarhus University, Aarhus, Denmark.

    Papers in Europe PMC
  6. 06
    Storm T5 papers · 2021

    Department of Biomedicine, Aarhus University, Aarhus, Denmark.

    Papers in Europe PMC
  7. 07
    Weisz OA5 papers · 2026

    Renal Electrolyte Division, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213.

    Papers in Europe PMC
  8. 08
    Beenken A4 papers · 2026

    Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York 10032, United States.

    Papers in Europe PMC
  9. 09
    Donnai D4 papers · 2008

    Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, United Kingdom

    Papers in Europe PMC
  10. 10
    Emma F4 papers · 2025

    Division of Nephrology, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital- Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.

    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. 1 observational study 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.

low 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

1 observational study matches 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.

Open the complete matched search on ClinicalTrials.gov

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 Donnai-Barrow 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.

("Donnai-Barrow syndrome" OR "DBS/FOAR syndrome" OR "Diaphragmatic hernia-exomphalos-hypertelorism syndrome" OR "Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" OR "Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome" OR "FOAR syndrome" OR "Facio-oculo-acoustico-renal syndrome" OR "Holmes-Schepens syndrome" OR "Syndrome of ocular and facial anomalies, telecanthus and deafness" OR "Syndrome of the ocular and facial anomalies, telecanthus and deafness" OR "Syndrome of ocular and facial anomalies, telecanthus and hearing loss" OR "Syndrome of the ocular and facial anomalies, telecanthus and hearing loss" OR "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" OR "faciooculoacousticorenal syndrome") OR ("LRP2" OR "LRP2 syndrome" OR "LRP2-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Donnai-Barrow syndrome" OR "DBS/FOAR syndrome" OR "Diaphragmatic hernia-exomphalos-hypertelorism syndrome" OR "Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" OR "Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome" OR "FOAR syndrome" OR "Facio-oculo-acoustico-renal syndrome" OR "Holmes-Schepens syndrome" OR "Syndrome of ocular and facial anomalies, telecanthus and deafness" OR "Syndrome of the ocular and facial anomalies, telecanthus and deafness" OR "Syndrome of ocular and facial anomalies, telecanthus and hearing loss" OR "Syndrome of the ocular and facial anomalies, telecanthus and hearing loss" OR "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" OR "faciooculoacousticorenal syndrome"

Study-type breakdown: 0 interventional · 1 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
  • Publication count (7400) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T19:17:09.184Z