ORPHA:96177
Ring chromosome 15 syndrome
Also known as: Ring 15 · Ring chromosome 15
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,279
Trials
0
Interventional, condition-specific
Researchers
1,009
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare chromosomal anomaly syndrome, with a highly variable , characterized by pre- and/or postnatal growth retardation, variable , short stature, features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include , speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).
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:0019908
- MeSH:C538035
- UMLS:C0795855
Additional Mondo synonyms (2)
Chromosome 15 Ring · Ring chromosome type 15
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
1,279 matched papers (676 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?
1,279
1,279 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.
1,279 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).
676 in the last 10 years · low confidence
Phrase hits: 1,279 · MeSH hits: 0
Who's working on it?
1,009
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.
- 01Woll A19 papers · 2026
Department of Sports and Sports Science, Karlsruhe Institute of Technology, Engler-Bunte Ring 15 (Building 40.40), 76131, Karlsruhe, Germany.
Papers in Europe PMC - 02Niessner C11 papers · 2026
Institute of Sports and Sport Science, Karlsruhe Institute of Technology, Engler-Bunte-Ring 15, Karlsruhe, 76131, Germany.
Papers in Europe PMC - 03Jekauc D8 papers · 2026
Department of Sports Sciences, Humboldt-Universität zu Berlin, Philippstraße 13 (Building 11), 10111, Berlin, Germany.
Papers in Europe PMC - 04Stein T8 papers · 2026
BioMotion Center, Institute of Sports and Sports Science, Karlsruhe Institute of Technology (KIT), Engler-Bunte-Ring 15, 76131 Karlsruhe, Germany.
Papers in Europe PMC - 05Ebert R7 papers · 2026
Bernhard-Heine-Center for Locomotion Research, Department of Musculoskeletal Tissue Regeneration, Julius-Maximilians-Universität Würzburg, Friedrich-Bergius-Ring 15, 97076 Würzburg, Germany. r-ebert.klh@uni-wuerzburg.de.
Papers in Europe PMC - 06Gieseler H7 papers · 2024
GILYOS GmbH, Friedrich-Bergius-Ring 15, 97076, Würzburg, Germany. info@gilyos.com.
Papers in Europe PMC - 07Schmidt SCE7 papers · 2025
Institute of Sports and Sports Science, Karlsruhe Institute of Technology, Engler-Bunte-Ring 15, 76131, Karlsruhe, Germany.
Papers in Europe PMC - 08Burchartz A6 papers · 2026
Institute of Sports and Sports Science, Karlsruhe Institute of Technology, Engler-Bunte-Ring 15, Building 40.40, 76131, Karlsruhe, Germany. alexander.burchartz@kit.edu.
Papers in Europe PMC - 09Wang L5 papers · 2026
Key Laboratory of General Chemistry of the National Ethnic Affairs Commission, School of Chemistry and Environment, Southwest Minzu University, Chengdu 610041, China.
Papers in Europe PMC - 10Zhang J5 papers · 2025
Department of Cardiothoracic Surgery Xinhua Hospital, School of Medicine, Shanghai Jiaotong University Shanghai 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 15 syndrome" OR "Ring 15" OR "Ring chromosome 15" OR "Chromosome 15 Ring" OR "Ring chromosome type 15"
MeSH descriptor terms unioned into the query: Chromosome 15 ring
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ring chromosome 15 syndrome" OR "Ring 15" OR "Ring chromosome 15" OR "Chromosome 15 Ring" OR "Ring chromosome type 15"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 (1279) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T04:57:22.555Z