ORPHA:2963
Progeroid syndrome, Petty type
Also known as: Petty syndrome · Petty-Laxova-Wiedemann syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Publications
74
Trials
—
Interventional, condition-specific
Researchers
516
Distinct authors in sample
Gene link
SLC25A24, SLC25A4
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.
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:0012853
- MeSH:C537290
- OMIM:233500
- OMIM:612289
- UMLS:C2676780
Additional Mondo synonyms (16)
FPS · Fontaine progeroid syndrome · GCM syndrome · GCMS · Gorlin Chaudhry Moss syndrome · Gorlin-Chaudhry-Moss Syndrome · Gorlin-Chaudhry-Moss syndrome · craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence · craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora · craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome · dental and eye anomalies, patent ductus arteriosus, and normal intelligence · dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome · progeroid syndrome Petty type · progeroid syndrome congenital Petty type · progeroid syndrome, Petty 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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Definitive — SLC25A24, SLC25A4
- LiteraturePresent
74 matched papers (52 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 checked
Trial fetch failed or incomplete
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 (SLC25A24, SLC25A4).
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?
74
74 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.
74 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).
52 in the last 10 years · low confidence
Phrase hits: 74 · MeSH hits: 0
Who's working on it?
516
Distinct author names in 74 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Faivre L3 papers · 2022
INSERM UMR 1231, Génétique des Anomalies du Développement, Université́ de Bourgogne Franche-Comté́, Dijon, France.
Papers in Europe PMC - 02Mundlos S3 papers · 2024
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, 13353, Berlin, Germany.
Papers in Europe PMC - 03Adolphs N2 papers · 2017
Department of Craniomaxillofacial Surgery, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
Papers in Europe PMC - 04Araújo-Vilar D2 papers · 2020
Thyroid and Metabolic Diseases Unit, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS)-IDIS, School of Medicine, Universidade de Santiago de Compostela, Avda. Barcelona 3, 15707, Santiago de Compostela, Spain. david.araujo@usc.es.
Papers in Europe PMC - 05Cagetti MG2 papers · 2021
Department of Biomedical, Surgical and Dental Science, University of Milan, Via Beldiletto 1, 20142 Milan, Italy.
Papers in Europe PMC - 06Cotter M2 papers · 2022
Department of Haematology Children's Health Ireland at Crumlin Dublin 12 Ireland.
Papers in Europe PMC - 07Ehmke N2 papers · 2024
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, 13353, Berlin, Germany.
Papers in Europe PMC - 08Finan A2 papers · 2022
Department of Paediatrics Cavan Monaghan Hospital, RCSI Hospital Group Cavan Ireland.
Papers in Europe PMC - 09Fischer-Zirnsak B2 papers · 2024
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, 13353, Berlin, Germany. bjoern.fischer@charite.de.
Papers in Europe PMC - 10Fradin M2 papers · 2024
Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles CRDI, Hôpital Sud - CHU Rennes, 16 boulevard de Bulgarie - BP 90347, Rennes cedex 2, Rennes, F-35203, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 27 July 2026
low confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional 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.
"Progeroid syndrome, Petty type" OR "Petty syndrome" OR "Petty-Laxova-Wiedemann syndrome" OR "Fontaine progeroid syndrome" OR "GCM syndrome" OR "Gorlin Chaudhry Moss syndrome" OR "Gorlin-Chaudhry-Moss Syndrome" OR "craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence" OR "craniofacial dysostosis, hypertrichosis, Hypoplasia of the labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence" OR "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora" OR "craniofacial dysostosis, hypertrichosis, hypoplasia of the labia majora" OR "craniofacial dysostosis-genital, dental, cardiac anomalies syndrome" OR "cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome" OR "cranofacial dysostosis-hypertrichosis-hypoplasia of the labia majora syndrome" OR "dental and eye anomalies, patent ductus arteriosus, and normal intelligence" OR "dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome" OR "progeroid syndrome Petty type" OR "progeroid syndrome congenital Petty type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Recall-expansion terms: SLC25A24, SLC25A4
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Synonyms dropped by stoplist: FPS; GCMS
Source errors: trials: Error: Failed after 5 retries: https://clinicaltrials.gov/api/v2/studies?query.cond=%22Progeroid%20syndrome%2C%20Petty%20type%22%20OR%20%22Petty%20syndrome%22%20OR%20%22Petty-Laxova-Wiedemann%20syndrome%22%20OR%20%22Fontaine%20progeroid%20syndrome%22%20OR%20%22GCM%20syndrome%22%20OR%20%22Gorlin%20Chaudhry%20Moss%20syndrome%22%20OR%20%22Gorlin-Chaudhry-Moss%20Syndrome%22%20OR%20%22craniofacial%20dysostosis%2C%20hypertrichosis%2C%20Hypoplasia%20of%20labia%20majora%2C%20dental%20and%20eye%20anomalies%2C%20patent%20ductus%20arteriosus%2C%20and%20normal%20intelligence%22%20OR%20%22craniofacial%20dysostosis%2C%20hypertrichosis%2C%20Hypoplasia%20of%20the%20labia%20majora%2C%20dental%20and%20eye%20anomalies%2C%20patent%20ductus%20arteriosus%2C%20and%20normal%20intelligence%22%20OR%20%22craniofacial%20dysostosis%2C%20hypertrichosis%2C%20hypoplasia%20of%20labia%20majora%22%20OR%20%22craniofacial%20dysostosis%2C%20hypertrichosis%2C%20hypoplasia%20of%20the%20labia%20majora%22%20OR%20%22craniofacial%20dysostosis-genital%2C%20dental%2C%20cardiac%20anomalies%20syndrome%22%20OR%20%22cranofacial%20dysostosis-hypertrichosis-hypoplasia%20of%20labia%20majora%20syndrome%22%20OR%20%22cranofacial%20dysostosis-hypertrichosis-hypoplasia%20of%20the%20labia%20majora%20syndrome%22%20OR%20%22dental%20and%20eye%20anomalies%2C%20patent%20ductus%20arteriosus%2C%20and%20normal%20intelligence%22%20OR%20%22dental%20and%20eye%20anomalies-patent%20ductus%20arteriosus-normal%20intelligence%20syndrome%22%20OR%20%22progeroid%20syndrome%20Petty%20type%22%20OR%20%22progeroid%20syndrome%20congenital%20Petty%20type%22%20OR%20%22SLC25A24%22%20OR%20%22SLC25A4%22&format=json&pageSize=100&countTotal=true — Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Progeroid%20syndrome%2C%20Petty%20type%22%20OR%20%22Petty%20syndrome%22%20OR%20%22Petty-Laxova-Wiedemann%20syndrome%22%20OR%20%22Fontaine%20progeroid%20syndrome%22%20OR%20%22GCM%20syndrome%22%20OR%20%22Gorlin%20Chaudhry%20Moss%20syndrome%22%20OR%20%22Gorlin-Chaudhry-Moss%20Syndrome%22%20OR%20%22craniofacial%20dysostosis%2C%20hypertrichosis%2C%20Hypoplasia%20of%20labia%20majora%2C%20dental%20and%20eye%20anomalies%2C%20patent%20ductus%20arteriosus%2C%20and%20normal%20intelligence%22%20OR%20%22craniofacial%20dysostosis%2C%20hypertrichosis%2C%20Hypoplasia%20of%20the%20labia%20majora%2C%20dental%20and%20eye%20anomalies%2C%20patent%20ductus%20arteriosus%2C%20and%20normal%20intelligence%22%20OR%20%22craniofacial%20dysostosis%2C%20hypertrichosis%2C%20hypoplasia%20of%20labia%20majora%22%20OR%20%22craniofacial%20dysostosis%2C%20hypertrichosis%2C%20hypoplasia%20of%20the%20labia%20majora%22%20OR%20%22craniofacial%20dysostosis-genital%2C%20dental%2C%20cardiac%20anomalies%20syndrome%22%20OR%20%22cranofacial%20dysostosis-hypertrichosis-hypoplasia%20of%20labia%20majora%20syndrome%22%20OR%20%22cranofacial%20dysostosis-hypertrichosis-hypoplasia%20of%20the%20labia%20majora%20syndrome%22%20OR%20%22dental%20and%20eye%20anomalies%2C%20patent%20ductus%20arteriosus%2C%20and%20normal%20intelligence%22%20OR%20%22dental%20and%20eye%20anomalies-patent%20ductus%20arteriosus-normal%20intelligence%20syndrome%22%20OR%20%22progeroid%20syndrome%20Petty%20type%22%20OR%20%22progeroid%20syndrome%20congenital%20Petty%20type%22%20OR%20%22SLC25A24%22%20OR%20%22SLC25A4%22&format=json&pageSize=100&countTotal=true
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- "Fontaine progeroid syndrome" also appears on ORPHA:697101
- "GCM syndrome" also appears on ORPHA:2095
- "Gorlin-Chaudhry-Moss Syndrome" also appears on ORPHA:2095
- "craniofacial dysostosis-genital, dental, cardiac anomalies syndrome" also appears on ORPHA:2095
- "cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome" also appears on ORPHA:2095
- "dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome" also appears on ORPHA:2095
Ingested 2026-07-26T21:48:46.737Z