ORPHA:2307
IVIC syndrome
Also known as: Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Publications
2,395
Trials
0
Interventional, condition-specific
Researchers
185
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
IVIC syndrome is a very rare genetic syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and bilateral non- mixed hearing loss.
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:0007836
- MeSH:C535544
- OMIM:147750
- UMLS:C1327918
Additional Mondo synonyms (2)
oculo-oto-radial syndrome · radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
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
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
2,395 matched papers (857 in last 10 years) Source
- Phenotype characterisedPresent
50 HPO annotations (e.g. Strabismus; Joint stiffness; Scoliosis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
50
Associated phenotypes · MONDO:0007836
- Strabismus
- Joint stiffness
- Scoliosis
- Preaxial hand polydactyly
- Thrombocytopenia
Showing 5 of 50 — 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?
2,395
2,395 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,395 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).
857 in the last 10 years · low confidence
Phrase hits: 38 · MeSH hits: 0
Who's working on it?
185
Distinct author names in 38 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.
- 01Chai L4 papers · 2016
Department of Pathology, Joint Program in Transfusion Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 02Gao C3 papers · 2016
Department of Pathology, Joint Program in Transfusion Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Papers in Europe PMC - 03Ma Y3 papers · 2014
Department of Pathology; The State University of New York at Stony Brook; Stony Brook, NY USA.
Papers in Europe PMC - 04Arias S2 papers · 2007Papers in Europe PMC
- 05Chen Y2 papers · 2025
Center for Drug Discovery; Northeastern University; Boston, MA USA and Sahlgrenska Academy; Gothenburg University; Gothenburg, Sweden.
Papers in Europe PMC - 06Li H2 papers · 2025
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 07Li J2 papers · 2025
Department of Stomatology, The Third Medical Center of Chinese PLA General Hospital, Beijing, China.
Papers in Europe PMC - 08Liu Y2 papers · 2025
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 09Neri G2 papers · 1989Papers in Europe PMC
- 10Sammito V2 papers · 1989
Oasi Institute for Research on Mental Retardation, Troina, 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · dropped 0 · fetched 2026-07-29
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 (10)
- ctis·2025-521506-17-01·Authorised·iSTOP-CP: intranasal Stem Cells to treat Perinatal brain injury to combat Cerebral Palsy
skipped — LLM skipped (--skip-llm)
- ctis·2024-513710-35-00·Authorised·SERORL Effect of aspirin and folic acid for sudden sensorineural hearing loss
skipped — LLM skipped (--skip-llm)
- ctis·2024-519966-31-00·Authorised, ongoing·Phase I/IIa clinical trial with dose escalation to evaluate safety and efficacy of the infusion of CART84 in relapsed/refractory (R/R) acute myeloid leukemia (AML) and acute lymphoblastic T leukemia patients (T-ALL).
skipped — LLM skipped (--skip-llm)
- ctis·2023-503829-18-00·Expired·HOVON 155 AML: A randomized phase II multicenter study to assess the tolerability and efficacy of the addition of midostaurin to 10-day decitabine in unfit (i.e. HCT-CI ≥ 3) adult AML and high-risk myelodysplasia (MDS) (IPSS-R > 4.5) patients. A study in the frame of the masterprotocol of parallel randomized phase II studies in UNFIT- AML/high-risk MDS patients.
skipped — LLM skipped (--skip-llm)
- ctis·2024-511335-10-01·Cancelled·Effects of closed-loop automatic control of the inspiratory fraction of oxygen (FiO2-C) on outcome of extremely preterm infants – a randomized controlled parallel group multicenter trial for safety and efficacy
skipped — LLM skipped (--skip-llm)
- ctis·2023-506546-23-00·Authorised, ongoing·Teicoplanin as Infection Prophylaxis in Pediatric Acute Myeloid Leukemia (Pro-Teico study)
An open-label, randomized clinical trial on teicoplanin infection prophylaxis in pediatric patients with acute myeloid leukemia
skipped — LLM skipped (--skip-llm)
- ctis·2024-515090-96-00·Cancelled·A Phase 3b/4, Double-masked, Randomized, International, Parallel-assignment, Multicenter Trial in Patients with Thyroid Eye Disease to Evaluate the Safety and Tolerability of Different Dosing Durations of Teprotumumab
skipped — LLM skipped (--skip-llm)
- ctis·2023-509780-25-00·Authorised, ongoing·Does the Use of Higher Versus Lower Oxygen Concentration Improve Neurodevelopmental Outcomes at 24 Months (plus or minus 6 months) in Very Low Birthweight Infants: The HiLo-Trial
skipped — LLM skipped (--skip-llm)
- ctis·2023-508259-38-00·Cancelled·An open-label, prospective Phase III clinical study to compare polatuzumab vedotin plus rituximab, ifosfamide, carboplatin and etoposide (Pola-R-ICE) with rituximab, ifosfamide, carboplatin and etoposide (R-ICE) alone as salvage therapy in patients with primary refractory or relapsed diffuse large B-cell lymphoma (DLBCL)
skipped — LLM skipped (--skip-llm)
- ctis·2023-503628-22-00·Expired·A Phase III, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Obinutuzumab in Patients with ISN/RPS 2003 Class III or IV Lupus Nephritis
skipped — LLM skipped (--skip-llm)
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 IVIC syndrome — check Associations / patient organisations on that page.
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.
("IVIC syndrome" OR "Oculo-oto-radial syndrome" OR "Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia") OR ("IVIC" OR "IVIC-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"IVIC syndrome" OR "Oculo-oto-radial syndrome" OR "Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia"
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
- Publication count (2395) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T19:46:26.782Z