ORPHA:363665
Acroosteolysis-keloid-like lesions-premature aging syndrome
Also known as: Premature aging syndrome, Penttinen type
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
51
51.6th percentile
Trials
0
Interventional, condition-specific
Researchers
439
Distinct authors in sample
Gene link
PDGFRB
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.
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:0011150
- MeSH:C536653
- OMIM:601812
- UMLS:C1866182
Additional Mondo synonyms (2)
premature ageing syndrome, Penttinen type · premature aging syndrome, Penttinen type
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 — PDGFRB
- LiteraturePresent
51 matched papers (45 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 (PDGFRB).
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?
51
51 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.
51 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).
45 in the last 10 years · high confidence · 51.6th percentile (publications denominator)
Phrase hits: 51 · MeSH hits: 0
Who's working on it?
439
Distinct author names in 51 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.
- 01Bredrup C8 papers · 2026
Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway.
Papers in Europe PMC - 02Demoulin JB7 papers · 2026
De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, Box B1.74.05, 1200, Brussels, Belgium. jb.demoulin@uclouvain.be.
Papers in Europe PMC - 03Bruland O4 papers · 2025
Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway.
Papers in Europe PMC - 04Gladkauskas T4 papers · 2026
Department of Clinical Medicine, University of Bergen, Bergen, Norway.
Papers in Europe PMC - 05Rødahl E4 papers · 2025
Department of Ophthalmology, Haukeland University Hospital, 5021, Bergen, Norway.
Papers in Europe PMC - 06Bardou M3 papers · 2026
Service de Pharmacologie et Centre d'Investigation Clinique, Centre Hospitalier Universitaire de Dijon, Dijon, France.
Papers in Europe PMC - 07Baselga E3 papers · 2026
Department of Dermatology, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
Papers in Europe PMC - 08Cormier-Daire V3 papers · 2025
INSERM UMR1163, Département de Génétique, Université Paris Descartes, Sorbonne Paris Cité and Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris 75006, France.
Papers in Europe PMC - 09Cristea I3 papers · 2025
Department of Clinical Medicine, University of Bergen, 5020, Bergen, Norway.
Papers in Europe PMC - 10Dachy G3 papers · 2022
De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, Box B1.74.05, 1200, Brussels, Belgium.
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.
high 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.
Broader category premature aging syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: premature aging syndrome
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Acroosteolysis-keloid-like lesions-premature aging syndrome" OR "Premature aging syndrome, Penttinen type" OR "premature ageing syndrome, Penttinen type"
MeSH descriptor terms unioned into the query: Penttinen-Aula syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acroosteolysis-keloid-like lesions-premature aging syndrome" OR "Premature aging syndrome, Penttinen type" OR "premature ageing syndrome, Penttinen type" OR "Penttinen-Aula syndrome" OR "PDGFRB"
Recall-expansion terms: PDGFRB
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"premature aging syndrome"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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
Ingested 2026-07-27T14:40:59.092Z