ORPHA:1450
Ring chromosome 8 syndrome
Also known as: Ring 8 · Ring chromosome 8 · r(8) syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A rare chromosomal anomaly comprising variable parts of chromosome 8. The of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.
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.
Is anyone studying this?
1,741
1,741 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=183) is 38.
1,741 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
935 in the last 10 years · low confidence
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
low confidence · 29.6th percentile (trials denominator)
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.
Who's working on it?
1,180
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.
- 01Baumbach J12 papers · 2026
Institute for Computational Systems Biology, University of Hamburg, Albert-Einstein-Ring 8-10, 22761 Hamburg, Germany.
Papers in Europe PMC - 02Rarey M11 papers · 2026
ZBH - Center for Bioinformatics, University of Hamburg, Albert Einstein Ring 8-10, 22761 Hamburg, Germany.
Papers in Europe PMC - 03Tsoy O7 papers · 2026
Institute for Computational Systems Biology, University of Hamburg, Albert-Einstein-Ring 8-10, 22761 Hamburg, Germany.
Papers in Europe PMC - 04Liu Z6 papers · 2026
Physical Intelligence Department, Max Planck Institute for Intelligent Systems, Stuttgart, Germany.
Papers in Europe PMC - 05Zhang J6 papers · 2025
School of Mechanical and Energy Engineering, Shaoyang University, Shaoyang, 422000, China.
Papers in Europe PMC - 06Li J5 papers · 2025
Department of Burn, Plastic and Wound Repair Surgery, The Second Affiliated Hospital, Xi'an Jiaotong University, Xi'an, China.
Papers in Europe PMC - 07Zhang X5 papers · 2026
University of Chinese Academy of Sciences, Shanghai 100049, People's Republic of China.
Papers in Europe PMC - 08Chen C4 papers · 2025
College of Veterinary Medicine, Qingdao Agricultural University, Qingdao, 266109, Shandong, China.
Papers in Europe PMC - 09Chen X4 papers · 2026
Department of Mechanical and Aerospace Engineering, The Hong Kong University of Science and Technology, Kowloon, Hong Kong.
Papers in Europe PMC - 10Dong X4 papers · 2025
Center for High Pressure Science and Technology Advanced Research, Beijing, 100093, China.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"Ring chromosome 8 syndrome" OR "Ring 8" OR "Ring chromosome 8" OR "r(8) syndrome" OR "rose cluster 8" OR "supernumerary ring/marker 8"
MeSH descriptor terms unioned into the query: Chromosome 8 ring
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ring chromosome 8 syndrome" OR "Ring 8" OR "Ring chromosome 8" OR "r(8) syndrome" OR "rose cluster 8" OR "supernumerary ring/marker 8" OR "Chromosome 8 ring"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C537824 UMLS:C4274902 NCIT:C121988
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 (1741) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity