ORPHA:97297
Bohring-Opitz syndrome
Also known as: BOS syndrome · Bohring syndrome · C-like syndrome · Oberklaid-Danks syndrome · Opitz trigonocephaly-like syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
278
79.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,435
Distinct authors in sample
Gene link
ASXL1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal , severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe . The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints.
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:0011510
- MeSH:C537419
- OMIM:605039
- UMLS:C0796232
- NCIT:C131533
Additional Mondo synonyms (1)
Bos 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.”
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 — ASXL1
- LiteraturePresent
278 matched papers (205 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 (ASXL1).
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?
278
278 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.
278 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).
205 in the last 10 years · medium confidence · 79.1th percentile (publications denominator)
Phrase hits: 278 · MeSH hits: 0
Who's working on it?
1,435
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.
- 01Russell BE8 papers · 2026
Division of Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA.
Papers in Europe PMC - 02Arboleda VA7 papers · 2026
Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.
Papers in Europe PMC - 03Weksberg R7 papers · 2024
Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. rweksb@sickkids.ca.
Papers in Europe PMC - 04Awamleh Z6 papers · 2024
Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
Papers in Europe PMC - 05Balcells S5 papers · 2020
Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.
Papers in Europe PMC - 06Grinberg D5 papers · 2020
Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.
Papers in Europe PMC - 07Li Z5 papers · 2025
1Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, Miami, FL 33136 USA.
Papers in Europe PMC - 08
- 09Newbury-Ecob R5 papers · 2019
Clinical Genetics Department, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Bristol, UK.
Papers in Europe PMC - 10Urreizti R5 papers · 2020
Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain. urreizti@ub.edu.
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.
Recruiting or not-yet-recruiting
- NCT03303716·RECRUITING·ASXL-Related Disorders Natural History Study
Conditions: Bohring-Opitz Syndrome · ASXL1 Gene Mutation · Shashi-Pena Syndrome · ASXL2 Gene Mutation·Matched via name phrase
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Bohring-Opitz syndrome" OR "BOS syndrome" OR "Bohring syndrome" OR "C-like syndrome" OR "Oberklaid-Danks syndrome" OR "Opitz trigonocephaly-like syndrome"
MeSH descriptor terms unioned into the query: Bohring syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bohring-Opitz syndrome" OR "BOS syndrome" OR "Bohring syndrome" OR "C-like syndrome" OR "Oberklaid-Danks syndrome" OR "Opitz trigonocephaly-like syndrome"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 (278) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T05:10:12.555Z