ORPHA:2143
Donnai-Barrow syndrome
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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
311
79.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,418
Distinct authors in sample
Gene link
LRP2
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009104
- MeSH:C536390
- OMIM:222448
- UMLS:C1857277
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — LRP2
- LiteraturePresent
311 matched papers (215 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?
Yes — we know a specific gene responsible (LRP2).
GenCC classification: Definitive.
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?
311
311 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.
311 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).
215 in the last 10 years · medium confidence · 79.8th percentile (publications denominator)
Phrase hits: 311 · MeSH hits: 0
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.
- 01Nielsen R7 papers · 2026
Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Papers in Europe PMC - 02Donahoe PK6 papers · 2026
Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA. donahoe.patricia@mgh.harvard.edu
Papers in Europe PMC - 03Pober BR6 papers · 2018
Center for Human Genetics, Massachusetts General Hospital, Boston, MA 02114, USA. pober.barbara@mgh.harvard.edu
Papers in Europe PMC - 04Willnow TE6 papers · 2023
Molecular Cardiovascular Research, Max-Delbrueck-Center for Molecular Medicine, 13092 Berlin, Germany.
Papers in Europe PMC - 05Christensen EI5 papers · 2023
Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Papers in Europe PMC - 06Storm T5 papers · 2021
Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Papers in Europe PMC - 07Weisz OA5 papers · 2026
Renal Electrolyte Division, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213.
Papers in Europe PMC - 08Beenken 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 - 09Donnai D4 papers · 2008
Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, United Kingdom
Papers in Europe PMC - 10Emma 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 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.
medium 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.
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.
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.
"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"
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" OR "LRP2"
Recall-expansion terms: LRP2
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 (311) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T19:17:09.184Z