ORPHA:2500
Acrogeria
Also known as: Acrogeria, Gottron type · Acrometageria · Gottron syndrome
Publications
246
67th percentile
Trials
0
Interventional, condition-specific
Researchers
1,119
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.
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:0008716
- MeSH:C538187
- OMIM:201200
- UMLS:C0406584
Additional Mondo synonyms (3)
Gottron Syndrome · acrogeria, Gottron type · acrometageria
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
246 matched papers (104 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?
246
246 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.
246 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).
104 in the last 10 years · medium confidence · 67th percentile (publications denominator)
Phrase hits: 246 · MeSH hits: 0
Who's working on it?
1,119
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.
- 01Kosho T8 papers · 2023
Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. ktomoki@shinshu-u.ac.jp
Papers in Europe PMC - 02Pope FM8 papers · 2023
West Middlesex University Hospital, Isleworth, Middlesex TW7 6AF, UK; Hospital of St John & St Elizabeth, London NW8 9NH, UK.
Papers in Europe PMC - 03Ghali N6 papers · 2025
National Ehlers Danlos Syndrome Service, London North West University Healthcare NHS Trust, London, UK.
Papers in Europe PMC - 04Malfait F6 papers · 2022
Ghent University Hospital - UZGent, De Pintelaan 185, Gent, 9000, Belgium
Papers in Europe PMC - 05Yamaguchi T6 papers · 2026
Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Papers in Europe PMC - 06Jeunemaitre X5 papers · 2022
Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Hôpital Européen Georges Pompidou, AP-HP, 20-40 rue Leblanc, 75908, Paris Cedex 15, France.
Papers in Europe PMC - 07van Dijk FS5 papers · 2025
National Ehlers Danlos Syndrome Service, London North West University Healthcare NHS Trust, London, UK.
Papers in Europe PMC - 08Zschocke J5 papers · 2024
Division of Human Genetics, Medical University of Innsbruck, Innsbruck 6020, Austria. Electronic address: johannes.zschocke@i-med.ac.at.
Papers in Europe PMC - 09Colombi M4 papers · 2024
Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.
Papers in Europe PMC - 10Frank M4 papers · 2022
Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Hôpital Européen Georges Pompidou, AP-HP, 20-40 rue Leblanc, 75908, Paris Cedex 15, France. michael.frank@aphp.fr.
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.
"Acrogeria" OR "Acrogeria, Gottron type" OR "Acrometageria" OR "Gottron syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acrogeria" OR "Acrogeria, Gottron type" OR "Acrometageria" OR "Gottron syndrome"
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T20:22:28.353Z