RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:2963

Progeroid syndrome, Petty type

low confidenceSubtype of disorder

Also known as: Petty syndrome · Petty-Laxova-Wiedemann syndrome

Query health: suspect — Source fetch failed for trials.

Publications

2,245

Trials

—

Interventional, condition-specific

Researchers

516

Distinct authors in sample

Gene link

SLC25A24, SLC25A4

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedPresent

    Definitive — SLC25A24, SLC25A4

  2. LiteraturePresent

    2,245 matched papers (1,667 in last 10 years) Source

  3. Phenotype characterisedPresent

    151 HPO annotations (e.g. Everted lower lip vermilion; Wide anterior fontanel; Epicanthus) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

151

Associated phenotypes · MONDO:0012853

  • Everted lower lip vermilion
  • Wide anterior fontanel
  • Epicanthus
  • Broad forehead
  • Strabismus

Showing 5 of 151 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,245

2,245 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=3967) is 59.

2,245 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,667 in the last 10 years · low confidence

Phrase hits: 74 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Faivre L3 papers · 2022

    INSERM UMR 1231, Génétique des Anomalies du Développement, Université́ de Bourgogne Franche-Comté́, Dijon, France.

    Papers in Europe PMC
  2. 02
    Mundlos 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
  3. 03
    Adolphs N2 papers · 2017

    Department of Craniomaxillofacial Surgery, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.

    Papers in Europe PMC
  4. 04
    Araújo-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
  5. 05
    Cagetti MG2 papers · 2021

    Department of Biomedical, Surgical and Dental Science, University of Milan, Via Beldiletto 1, 20142 Milan, Italy.

    Papers in Europe PMC
  6. 06
    Cotter M2 papers · 2022

    Department of Haematology Children's Health Ireland at Crumlin Dublin 12 Ireland.

    Papers in Europe PMC
  7. 07
    Ehmke 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
  8. 08
    Finan A2 papers · 2022

    Department of Paediatrics Cavan Monaghan Hospital, RCSI Hospital Group Cavan Ireland.

    Papers in Europe PMC
  9. 09
    Fischer-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
  10. 10
    Fradin 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 11 September 2026 · last trial check 31 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Progeroid syndrome, Petty type — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("SLC25A24" OR "SLC25A24 syndrome" OR "SLC25A24-related" OR "SLC25A4" OR "SLC25A4 syndrome" OR "SLC25A4-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Progeroid syndrome, Petty type"

Query health: suspect — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FPS; GCMS

Source errors: trials: 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&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
  • Publication count (2245) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T21:48:46.737Z