ORPHA:85202
Keutel syndrome
Also known as: Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome
Publications
234
69.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,064
Distinct authors in sample
Gene link
MGP
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
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:0009495
- MeSH:C536167
- OMIM:245150
- UMLS:C1855607
Additional Mondo synonyms (1)
pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — MGP
- LiteraturePresent
234 matched papers (121 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?
Yes — we know a specific gene responsible (MGP).
GenCC classification: Definitive.
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?
234
234 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
234 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).
121 in the last 10 years · medium confidence · 69.6th percentile (publications denominator)
Phrase hits: 234 · MeSH hits: 4
Who's working on it?
1,064
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.
- 01Schurgers LJ9 papers · 2024
Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht 6229 ER, The Netherlands. l.schurgers@maastrichtuniversity.nl.
Papers in Europe PMC - 02Murshed M8 papers · 2024
Faculty of Dentistry, McGill University, Montreal, Quebec H3A 1G1, Canada.
Papers in Europe PMC - 03Boström KI7 papers · 2024
Division of Cardiology, David Geffen School of Medicine at UCLA (P.J.G., Y.G., X.W., L.Z., J.Y., M.J., Y.Y., A.G., K.I.B.).
Papers in Europe PMC - 04Cancela ML7 papers · 2024
Department of Biomedical Sciences and Medicine, Algarve Biomedical Centre, Centre of Marine Sciences/CCMAR, University of Algarve, Faro, Portugal.
Papers in Europe PMC - 05Conceição N6 papers · 2024
Department of Biomedical Sciences and Medicine, Algarve Biomedical Centre, Centre of Marine Sciences/CCMAR, University of Algarve, Faro, Portugal.
Papers in Europe PMC - 06Yao Y5 papers · 2024
Division of Cardiology, David Geffen School of Medicine at UCLA (P.J.G., Y.G., X.W., L.Z., J.Y., M.J., Y.Y., A.G., K.I.B.).
Papers in Europe PMC - 07Borrás T4 papers · 2020
Department of Ophthalmology, University of North Carolina School of Medicine, 4109C Neuroscience Research Building CB 7041, 115 Mason Farm Road, Chapel Hill, NC, 27599-7041, USA. tborras@med.unc.edu.
Papers in Europe PMC - 08Kempf H4 papers · 2021
French Institute of Health and Medical Research, UMR 7365 CNRS-Université de Lorraine, Paris, France.
Papers in Europe PMC - 09Martin L4 papers · 2024
UMR CNRS 6015-Inserm 1083, School of Medicine, Bretagne Loire University, 49045 Angers, France. LuMartin@chu-angers.fr.
Papers in Europe PMC - 10Vermeer C4 papers · 2020
Cardiovascular Research Institute CARIM, Maastricht University, Maastricht, The Netherlands.
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.
medium 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.
"Keutel syndrome" OR "Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome" OR "Pulmonic stenosis-brachytelephalangism-calcification of the cartilages syndrome"
MeSH descriptor terms unioned into the query: Keutel syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Keutel syndrome" OR "Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome" OR "Pulmonic stenosis-brachytelephalangism-calcification of the cartilages syndrome" OR "MGP"
Recall-expansion terms: MGP
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:50:16.303Z