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ORPHA:93293

Okihiro syndrome

low confidenceDisorder

Also known as: Duane-radial ray syndrome

Publications

5,800

Trials

0

Interventional, condition-specific

Researchers

1,103

Distinct authors in sample

Gene link

SALL4

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare multiple anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly ( limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure), renal abnormalities, sensorineural and/or conductive hearing loss, and, less frequently, imperforate anus and scoliosis.

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 (4)

DR syndrome · DRRS · Duane anomaly with radial ray abnormalities and deafness · acro-renal-ocular 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.”

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 — SALL4

  2. LiteraturePresent

    5,800 matched papers (4,370 in last 10 years) Source

  3. Phenotype characterisedPresent

    98 HPO annotations (e.g. Horseshoe kidney; Abnormal morphology of the radius; Crossed fused renal ectopia) Source

  4. Animal modelPresent

    4 genotype models (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 (SALL4).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

98

Associated phenotypes · MONDO:0011812

  • Horseshoe kidney
  • Abnormal morphology of the radius
  • Crossed fused renal ectopia
  • Sandal gap
  • Hypoplasia of the ulna

Showing 5 of 98 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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?

5,800

5,800 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.

5,800 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).

4,370 in the last 10 years · low confidence

Phrase hits: 311 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,103

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
    Kohlhase J14 papers · 2008

    Institut für Humangenetik, Georg-August-Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany. jkohlha@gwdg.de

    Papers in Europe PMC
  2. 02
    Chai L8 papers · 2016

    Department of Pathology, Joint Program in Transfusion Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. lchai@partners.org

    Papers in Europe PMC
  3. 03
    Engle EC8 papers · 2025

    Department of Medicine, Program in Genomics, Boston, Massachusetts, USA

    Papers in Europe PMC
  4. 04
    Yang J7 papers · 2025

    State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, 200120, China. jy279@tongji.edu.cn.

    Papers in Europe PMC
  5. 05
    Borozdin W6 papers · 2008

    Praxis für Humangenetik, Freiburg, Germany.

    Papers in Europe PMC
  6. 06
    Ma Y6 papers · 2014

    Department of Pathology; The State University of New York at Stony Brook; Stony Brook, NY USA.

    Papers in Europe PMC
  7. 07
    Zhang X6 papers · 2025

    Jiangsu Key Laboratory of Medical Science and Laboratory Medicine, School of Medicine, Jiangsu University, Zhenjiang, Jiangsu, China.

    Papers in Europe PMC
  8. 08
    Bird A4 papers · 2025

    Institute of Cell Biology, , ,

    Papers in Europe PMC
  9. 09
    Böhm J4 papers · 2008

    Institut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  10. 10
    Brooks BP4 papers · 2025

    National Eye Institute, NIH, Bethesda, MD 20892, USA.

    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.

Recruiting or not-yet-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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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 (40)

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 Okihiro 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.

("Okihiro syndrome" OR "Duane-radial ray syndrome" OR "DR syndrome" OR "Duane anomaly with radial ray abnormalities and deafness" OR "acro-renal-ocular syndrome") OR ("SALL4" OR "SALL4 syndrome" OR "SALL4-related")

Run this search on Europe PMC

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

"Okihiro syndrome" OR "Duane-radial ray syndrome" OR "DR syndrome" OR "Duane anomaly with radial ray abnormalities and deafness" OR "acro-renal-ocular 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

Synonyms dropped by stoplist: DRRS

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "acro-renal-ocular syndrome" also appears on ORPHA:959
  • Publication count (5800) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T04:12:34.290Z