ORPHA:221016
Rothmund-Thomson syndrome type 2
Also known as: RTS2 · Poikiloderma of Rothmund-Thomson type 2
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
27
41.2th percentile
Trials
0
Interventional, condition-specific
Researchers
242
Distinct authors in sample
Gene link
RECQL4
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
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:0016369
- OMIM:268400
- UMLS:C5203410
- NCIT:C178827
Additional Mondo synonyms (2)
Rothmund-Thomson syndrome, type 2 · poikiloderma of Rothmund-Thomson type 2
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — RECQL4
- LiteraturePresent
27 matched papers (26 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 trialPartial
None under the specific name; 1 for broader category Rothmund-Thomson syndrome
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 (RECQL4).
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?
27
27 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.
27 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).
26 in the last 10 years · medium confidence · 41.2th percentile (publications denominator)
Phrase hits: 27 · MeSH hits: 0
Who's working on it?
242
Distinct author names in 27 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.
- 01Colombo EA2 papers · 2023
Genetica Medica, Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, 20142 Milano, Italy.
Papers in Europe PMC - 02Jin W2 papers · 2019
Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine Kentucky, USA
Papers in Europe PMC - 03Wang LL2 papers · 2019
Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine Kentucky, USA
Papers in Europe PMC - 04Abele M1 paper · 2023
Department of Paediatric Haematology and Oncology, University Children's Hospital Tübingen, Tübingen, Germany.
Papers in Europe PMC - 05Ahrens-Nicklas R1 paper · 2025
Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 06Ajeawung NF1 paper · 2019
Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada.
Papers in Europe PMC - 07Akkurt MY1 paper · 2023
Faculty of Veterinary Medicine, Department of Genetics, Ankara University, Ankara, Türkiye.
Papers in Europe PMC - 08Al-Jamal RT1 paper · 2025
Ocular Oncology Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Papers in Europe PMC - 09An W1 paper · 2025
Medical Department, Zhejiang Biosan Biochemical Technologies Co., Ltd, Hangzhou, Zhejiang, China.
Papers in Europe PMC - 10Anderson JL1 paper · 2022
Department of Cardiology, Intermountain Healthcare, Salt Lake City, UT 84107, USA.
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). 1 trial are registered for Rothmund-Thomson syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
1 interventional trial matched Rothmund-Thomson syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Rothmund-Thomson syndrome
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. 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.
"Rothmund-Thomson syndrome type 2" OR "Poikiloderma of Rothmund-Thomson type 2" OR "Poikiloderma of the Rothmund-Thomson type 2" OR "Rothmund-Thomson syndrome, type 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Rothmund-Thomson syndrome type 2" OR "Poikiloderma of Rothmund-Thomson type 2" OR "Poikiloderma of the Rothmund-Thomson type 2" OR "Rothmund-Thomson syndrome, type 2" OR "RECQL4"
Recall-expansion terms: RECQL4
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Rothmund-Thomson syndrome"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: RTS2
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T09:54:37.721Z