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ORPHA:97297

Bohring-Opitz syndrome

medium confidenceDisorder

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

68.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,435

Distinct authors in sample

Gene link

ASXL1

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

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

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — ASXL1

  2. LiteraturePresent

    278 matched papers (205 in last 10 years) Source

  3. Phenotype characterisedPresent

    137 HPO annotations (e.g. Neonatal respiratory distress; Short stature; Flexion contracture) 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 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)

137

Associated phenotypes · MONDO:0011510

  • Neonatal respiratory distress
  • Short stature
  • Flexion contracture
  • Profound intellectual disability
  • Hyperechogenic pancreas

Showing 5 of 137 — 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?

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=3967) is 59.

278 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).

205 in the last 10 years · medium confidence · 68.5th percentile (publications denominator)

Phrase hits: 278 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Russell BE8 papers · 2026

    Division of Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA.

    Papers in Europe PMC
  2. 02
    Arboleda 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
  3. 03
    Weksberg 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
  4. 04
    Awamleh Z6 papers · 2024

    Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.

    Papers in Europe PMC
  5. 05
    Balcells S5 papers · 2020

    Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.

    Papers in Europe PMC
  6. 06
    Grinberg D5 papers · 2020

    Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.

    Papers in Europe PMC
  7. 07
    Li Z5 papers · 2025

    1Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, Miami, FL 33136 USA.

    Papers in Europe PMC
  8. 08
    Lin I5 papers · 2026

    Department of Human Genetics.

    Papers in Europe PMC
  9. 09
    Newbury-Ecob R5 papers · 2019

    Clinical Genetics Department, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Bristol, UK.

    Papers in Europe PMC
  10. 10
    Urreizti 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 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.

medium 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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.

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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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).

Uncertain / not reviewed (4)

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 Bohring-Opitz 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.

"Bohring-Opitz syndrome" OR "BOS syndrome" OR "Bohring syndrome" OR "C-like syndrome" OR "Oberklaid-Danks syndrome" OR "Opitz trigonocephaly-like syndrome"

Run this search on Europe PMC

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