ORPHA:1449
Ring chromosome 7 syndrome
Also known as: Ring 7 · Ring chromosome 7
Publications
1,748
Trials
0
Interventional, condition-specific
Researchers
1,179
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable , principally characterized by growth failure, short stature, , dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).
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:0015441
- MeSH:C537813
- UMLS:C2931622
- NCIT:C121986
Additional Mondo synonyms (2)
Ring chromosome type 7 · rose cluster 7
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
1,748 matched papers (847 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?
1,748
1,748 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=5449) is 41.
1,748 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).
847 in the last 10 years · low confidence
Phrase hits: 1,748 · MeSH hits: 0
Who's working on it?
1,179
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.
- 01Li X4 papers · 2026
R&D Center, Shanghai Hengrui Pharmaceutical Co., LTD., 279 Wenjing Road, Shanghai 200245, China.
Papers in Europe PMC - 02Liu Y4 papers · 2026
Liaoning Key Laboratory of Information Physics Fusion and Intelligent Manufacturing for CNC Machine, Shenyang Institute of Technology, Fushun, Liaoning, China.
Papers in Europe PMC - 03Wu J4 papers · 2025
Department of Chemistry, National University of Singapore, 3 Science Drive 3, Singapore 117543, Singapore.
Papers in Europe PMC - 04Zhang H4 papers · 2025
Department of Radiology, The Second Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, China.
Papers in Europe PMC - 05Lagarto JL3 papers · 2024
Biophotonics Platform, Champalimaud Clinical Centre, Champalimaud Foundation, Av. Brasilia, 1400-038 Lisbon, Portugal.
Papers in Europe PMC - 06Li Y3 papers · 2026
First Department of General Surgery, Shaanxi Provincial People's Hospital, Xi'an, Shaanxi, 710000, China.
Papers in Europe PMC - 07Shcheslavskiy VI3 papers · 2025
Privolzhsky Research Medical University, Minin and Pozharsky Sq. 10/1, 603005, Nizhny Novgorod, Russia.
Papers in Europe PMC - 08Stevenson M3 papers · 2025
Imperial Brands PLC, 121 Winterstoke Road, Bristol BS3 2LL, UK.
Papers in Europe PMC - 09Tenea GN3 papers · 2026
Biofood and Nutraceutics Research and Development Group, Faculty of Engineering in Agricultural and Environmental Sciences, Universidad Técnica del Norte, Ibarra, Ecuador.
Papers in Europe PMC - 10Wang H3 papers · 2026
College of Food and Bioengineering, Zhengzhou University of Light Industry, Zhengzhou 450001, China; Key Laboratory of Cold Chain Food Processing and Safety Control, Ministry of Education, Zhengzhou University of Light Industry, Zhengzhou 450001, China; Institute of Life and Health, Zhengzhou University of Light Industry, Zhengzhou 450001, 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 7 syndrome" OR "Ring 7" OR "Ring chromosome 7" OR "Ring chromosome type 7" OR "rose cluster 7"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ring chromosome 7 syndrome" OR "Ring 7" OR "Ring chromosome 7" OR "Ring chromosome type 7" OR "rose cluster 7"
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 (1748) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T17:24:50.616Z