ORPHA:1439
Ring chromosome 12 syndrome
Also known as: Ring 12 · Ring chromosome 12
Publications
1,307
Trials
0
Interventional, condition-specific
Researchers
1,178
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable principally characterized by postnatal growth retardation, variable degrees of and , microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), heart malformations, cryptorchidism, café-au-lait spots and have also been reported.
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:0015432
- MeSH:C538298
- UMLS:C0795843
Additional Mondo synonyms (1)
Ring chromosome type 12
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
1,307 matched papers (602 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?
1,307
1,307 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.
1,307 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).
602 in the last 10 years · low confidence
Phrase hits: 1,307 · MeSH hits: 0
Who's working on it?
1,178
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.
- 01Strehle S10 papers · 2026
Institute of Micro- and Nanotechnology, Technische Universität Ilmenau, Max-Planck-Ring 12, Ilmenau, Germany.
Papers in Europe PMC - 02Wang S5 papers · 2025
Department of Gastroenterology, Beijing Friendship Hospital, Capital Medical University; National Clinical Research Center for Digestive Diseases; State Key Laboratory of Digestive Health; Beijing Digestive Disease Center; Beijing Key Laboratory for Precancerous Lesion of Digestive Diseases, Beijing, China.
Papers in Europe PMC - 03Wang Y5 papers · 2025
Department of Dermatology, Tianjin Children's Hospital/Tianjin University Children's Hospital, Tianjin, China.
Papers in Europe PMC - 04Chen L3 papers · 2025
School of Petroleum Engineering, China University of Petroleum (East China), Qingdao 266580, China.
Papers in Europe PMC - 05Li Y3 papers · 2024
School of Chemical Engineering and State Key Laboratory of Polymer Materials Engineering, Sichuan University, Chengdu, 610065, P. R. China.
Papers in Europe PMC - 06Liu Y3 papers · 2025
School of Chemistry and Molecular Biosciences, University of Queensland Brisbane 4072 Queensland Australia c.williams3@uq.edu.au.
Papers in Europe PMC - 07Wang K3 papers · 2025
The State Key Laboratory of Transducer Technology, Aerospace Information Research Institute, Chinese Academy of Sciences, Beijing 100190, China.
Papers in Europe PMC - 08Wu Y3 papers · 2025
College of Chemical Engineering and Technology, Shanxi Key Laboratory of Chemical Product Engineering, Taiyuan University of Technology, Taiyuan 030024, People's Republic of China.
Papers in Europe PMC - 09Zhao C3 papers · 2026
Shanghai Veterinary Research Institute, Chinese Academy of Agricultural Science, Shanghai, PR China; College of Animal Science and Technology, Guangxi University, Nanning, 530004, PR China.
Papers in Europe PMC - 10Zhao J3 papers · 2024
Department of Orthopaedics Trauma and Hand Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. zhaojinmin@126.com.
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 12 syndrome" OR "Ring 12" OR "Ring chromosome 12" OR "Ring chromosome type 12"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ring chromosome 12 syndrome" OR "Ring 12" OR "Ring chromosome 12" OR "Ring chromosome type 12"
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 (1307) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T17:21:12.120Z