ORPHA:3262
Dobrow syndrome
Also known as: Syngnathia-multiple anomalies syndrome
Publications
51
37.8th percentile
Trials
0
Interventional, condition-specific
Researchers
274
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple defects/ syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, , microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.
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:0017980
- UMLS:C5190737
Additional Mondo synonyms (2)
dobrow syndrome · syngnathia-multiple anomalies 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
51 matched papers (21 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?
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=5449) is 41.
51 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).
21 in the last 10 years · medium confidence · 37.8th percentile (publications denominator)
Phrase hits: 51 · MeSH hits: 0
Who's working on it?
274
Distinct author names in 51 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.
- 01Shprintzen RJ3 papers · 2012
Department of Otolaryngology and Communication Science, Velo-Cardio-Facial Syndrome International Center, State University of New York, Upstate Medical University, Syracuse, NY 13210, USA. shprintr@upstate.edu
Papers in Europe PMC - 02Biswas AB2 papers · 2016
Leicestershire Partnership NHS Trust & University of Leicester* Leicester Frith Hospital, Groby Road, Leicester LE3 9QF, UK. Electronic address: asitbiswas@yahoo.co.uk.
Papers in Europe PMC - 03Furniss F2 papers · 2016
The Hesley Group, Doncaster, UK & School of Psychology, University of Leicester, Hesley Hall, Stripe Road, Tickhill, Doncaster DN11 9HH, United Kingdom. fred.furniss@hesleygroup.co.uk
Papers in Europe PMC - 04Hallberg U2 papers · 2010
Nordic School of Public Health, Göteborg, Sweden. ulrika.hallberg@nhv.se
Papers in Europe PMC - 05Klingberg G2 papers · 2010
Mun-H-Center, National Orofacial Resource Centre for Rare Disorders, and Department of Pediatric Dentistry, The Sahlgrenska Academy at the University of Gothenburg, Göteborg, Sweden.
Papers in Europe PMC - 06Oskarsdóttir S2 papers · 2010Papers in Europe PMC
- 07Abbaszadegan MR1 paper · 2013Papers in Europe PMC
- 08Abebe DG1 paper · 2025
Pediatrics Department ALERT Comprehensive Specialized Hospital Addis Ababa Ethiopia.
Papers in Europe PMC - 09Acharya Y1 paper · 2024
CORRIB-CURAM-Vascular Group Collaborators, University of Galway, Galway, Ireland.
Papers in Europe PMC - 10Ageed A1 paper · 2024
Medicine and Surgery, University Hospitals of Leicester NHS Trust, Leicester, GBR.
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 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.
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.
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.
"Dobrow syndrome" OR "Syngnathia-multiple anomalies syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Dobrow syndrome" OR "Syngnathia-multiple anomalies 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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T22:41:51.375Z