ORPHA:96171
Ring chromosome 2 syndrome
Also known as: Ring 2 · Ring chromosome 2
Publications
5,391
Trials
0
Interventional, condition-specific
Researchers
1,221
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable principally characterized by intrauterine growth retardation, , , , mild features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).
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:0019903
- UMLS:C4707448
- NCIT:C121981
Additional Mondo synonyms (2)
Ring chromosome type 2 · rose cluster 2
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
5,391 matched papers (2,910 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?
5,391
5,391 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=5449) is 41.
5,391 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).
2,910 in the last 10 years · low confidence
Phrase hits: 5,391 · MeSH hits: 0
Who's working on it?
1,221
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.
- 01Wang X5 papers · 2026
College of Veterinary Medicine, Qingdao Agricultural University, Qingdao, 266109, Shandong, China.
Papers in Europe PMC - 02Gao Y4 papers · 2024
School of Electronic and Information Engineering, Liaoning Technical University, Huludao 125105, China.
Papers in Europe PMC - 03Guo J4 papers · 2026
Key Laboratory for Liquid-Solid Structural Evolution and Processing of Materials, Ministry of Education, Shandong University, Jinan 250061, China.
Papers in Europe PMC - 04Li C4 papers · 2026
College of Agriculture and Biology, Zhongkai University of Agriculture and Engineering, Guangzhou, 510225, People's Republic of China.
Papers in Europe PMC - 05Li H4 papers · 2026
Key Laboratory for Liquid-Solid Structural Evolution and Processing of Materials, Ministry of Education, Shandong University, Jinan 250061, China.
Papers in Europe PMC - 06Li Y4 papers · 2026
College of Chemistry and Chemical Engineering, Shanghai University of Engineering Science 333 Longteng Road Shanghai 201620 China.
Papers in Europe PMC - 07Liu J4 papers · 2026
Department of Medicinal Chemistry, College of Pharmacy, UF Health Science Center, UF Health Cancer Center, University of Florida, Gainesville, Florida 32610, United States.
Papers in Europe PMC - 08Barbano L3 papers · 2025
IRCCS—Fondazione Bietti, Via Livenza 1, 00198 Rome, Italy; (V.P.); (G.A.); (A.D.R.); (L.Z.)
Papers in Europe PMC - 09Bertram H3 papers · 2026
Statistics and Data Science Group, Department of Agriculture, South Westphalia University of Applied Sciences, Lübecker Ring 2, Soest, 59494, North Rhine-Westphalia, Germany. bertram.hendrik@fh-swf.de.
Papers in Europe PMC - 10Chen C3 papers · 2025
College of Veterinary Medicine, Qingdao Agricultural University, Qingdao, 266109, Shandong, China.
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.
low 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.
"Ring chromosome 2 syndrome" OR "Ring 2" OR "Ring chromosome 2" OR "Ring chromosome type 2" OR "rose cluster 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ring chromosome 2 syndrome" OR "Ring 2" OR "Ring chromosome 2" OR "Ring chromosome type 2" OR "rose cluster 2"
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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (5391) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T04:56:10.466Z