ORPHA:1443
Ring chromosome 19 syndrome
Also known as: Ring 19 · Ring chromosome 19
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable that may range from normal to patients with profound , , learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, 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.
Is anyone studying this?
1,412
1,412 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.
1,412 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).
739 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?
707
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.
- 01Wenger OS54 papers · 2026
Department of Chemistry, University of Basel, St. Johanns-Ring 19, 4056 Basel, Switzerland.
Papers in Europe PMC - 02Mayor M25 papers · 2026
Institute of Nanotechnology, Karlsruhe Institute of Technology, P.O. Box 3640, 76021 Karlsruhe, Germany.
Papers in Europe PMC - 03Sparr C23 papers · 2026
Department of Chemistry, University of Basel, St. Johanns-Ring 19, 4056, Basel, Switzerland.
Papers in Europe PMC - 04Häussinger D21 papers · 2026
Department of Chemistry, University of Basel, St. Johanns-Ring 19, 4056 Basel, Switzerland.
Papers in Europe PMC - 05Baudoin O18 papers · 2025
University of Basel , Department of Chemistry , St. Johanns-Ring 19 , 4056 Basel , Switzerland.
Papers in Europe PMC - 06Prescimone A18 papers · 2026
Department of Chemistry, University of Basel, BPR 1096, Mattenstrasse 24a, 4058 Basel, Switzerland.
Papers in Europe PMC - 07Wellauer J9 papers · 2026
Department of Chemistry, University of Basel, St. Johanns-Ring 19, 4056 Basel, Switzerland.
Papers in Europe PMC - 08Gillingham D8 papers · 2023
Department of Chemistry, University of Basel St. Johanns-Ring 19, CH-4056 Basel;, Email: dennis.gillingham@unibas.ch.
Papers in Europe PMC - 09van der Zant HSJ7 papers · 2025
Kavli Institute of Nanoscience, Delft University of Technology Lorentzweg 1 Delft 2628 CJ The Netherlands h.s.j.vanderzant@tudelft.nl.
Papers in Europe PMC - 10Fuhr O6 papers · 2025
Institute for Nanotechnology (INT), Karlsruhe Institute of Technology (KIT), P.O. Box 3640, 76021 Karlsruhe, Germany.
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 19 syndrome" OR "Ring 19" OR "Ring chromosome 19" OR "Ring chromosome type 19"
MeSH descriptor terms unioned into the query: Chromosome 19 ring
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ring chromosome 19 syndrome" OR "Ring 19" OR "Ring chromosome 19" OR "Ring chromosome type 19" OR "Chromosome 19 ring"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C538310 UMLS:C2931812
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 (1412) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity