ORPHA:3088
Revesz syndrome
Also known as: Dyskeratosis congenita with bilateral exudative retinopathy · Retinopathy-anemia-central nervous system anomalies syndrome · Revesz-DeBuse syndrome
Clinical definition (Orphanet)
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail , oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.
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.
Is anyone studying this?
203
203 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=183) is 38.
203 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
135 in the last 10 years · medium confidence · 72.4th percentile (publications denominator)
Is a treatment being tested?
2
trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 26 July 2026
2 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 74.7th percentile).
medium confidence · 74.7th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (TINF2).
GenCC classification: Definitive.
Who's working on it?
962
Distinct author names in 200 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.
- 01Savage SA39 papers · 2026
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, United States. savagesh@mail.nih.gov
Papers in Europe PMC - 02Alter BP18 papers · 2022
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
Papers in Europe PMC - 03Giri N17 papers · 2025
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
Papers in Europe PMC - 04Agarwal S8 papers · 2024
Division of Hematology/Oncology, Children's Hospital Boston, MA 02115, USA.
Papers in Europe PMC - 05
- 06Niewisch MR7 papers · 2025
Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
Papers in Europe PMC - 07McReynolds LJ6 papers · 2025
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.
Papers in Europe PMC - 08Beier F5 papers · 2024
Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Germany.
Papers in Europe PMC - 09Khincha PP5 papers · 2024
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD; Children's National Medical Center, Washington, DC.
Papers in Europe PMC - 10Calado RT4 papers · 2024
Department of Internal Medicine, University of São Paulo at Ribeirão Preto School of Medicine, Ribeirão Preto, SP, Brazil
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
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 below but are not added to the query string.
"Revesz syndrome" OR "Dyskeratosis congenita with bilateral exudative retinopathy" OR "Retinopathy-anemia-central nervous system anomalies syndrome" OR "Revesz-DeBuse syndrome" OR "DKCA5" OR "dyskeratosis congenita, autosomal dominant 5" OR "exudative retinopathy with bone marrow failure"
MeSH descriptor terms unioned into the query: Revesz Debuse syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Revesz syndrome" OR "Dyskeratosis congenita with bilateral exudative retinopathy" OR "Retinopathy-anemia-central nervous system anomalies syndrome" OR "Revesz-DeBuse syndrome" OR "DKCA5" OR "dyskeratosis congenita, autosomal dominant 5" OR "exudative retinopathy with bone marrow failure" OR "Revesz Debuse syndrome" OR "TINF2"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C538371 OMIM:268130 UMLS:C1327916 NCIT:C152064
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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