ORPHA:93262
Crouzon syndrome-acanthosis nigricans syndrome
Also known as: Crouzon-dermoskeletal syndrome
Publications
3,243
Trials
15
Interventional, condition-specific
Researchers
1,250
Distinct authors in sample
Gene link
FGFR3
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012833
- MeSH:C567382
- OMIM:612247
- UMLS:C2677099
- NCIT:C38145
Additional Mondo synonyms (4)
CAN · Chronic kidney allograft nephropathy · Crouzonodermoskeletal syndrome · chronic allograft nephropathy
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — FGFR3
- LiteraturePresent
3,243 matched papers (1,063 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 trialPresent
15 matched on ClinicalTrials.gov
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 (FGFR3).
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?
3,243
3,243 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=5449) is 41.
3,243 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).
1,063 in the last 10 years · low confidence
Phrase hits: 3,240 · MeSH hits: 4
Who's working on it?
1,250
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.
- 01Wang Y8 papers · 2026
Department of Medical Ultrasound, West China Hospital, Sichuan University, Chengdu, China.
Papers in Europe PMC - 02Zhang S4 papers · 2026
Department of Ultrasound, Renji Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China.
Papers in Europe PMC - 03Zhou J4 papers · 2026
Department of Medical Ultrasound, West China Hospital, Sichuan University, Chengdu, China.
Papers in Europe PMC - 04Chen X3 papers · 2026
Department of Medical Ultrasound, West China Hospital, Sichuan University, Chengdu, China.
Papers in Europe PMC - 05Hwang NY3 papers · 2023
Statistics and Data Center, Research Institute for Future Medicine, Samsung Medical Center, Seoul, Republic of Korea.
Papers in Europe PMC - 06Johnson DW3 papers · 2025
Australasian Kidney Trials Network, The University of Queensland, Queensland, Australia.
Papers in Europe PMC - 07Kim K3 papers · 2023
Statistics and Data Center, Research Institute for Future Medicine, Samsung Medical Center, Seoul, Republic of Korea.
Papers in Europe PMC - 08Lee JE3 papers · 2023
Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Papers in Europe PMC - 09Lee KW3 papers · 2023
Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address: kw1980.lee@gmail.com.
Papers in Europe PMC - 10Lee O3 papers · 2023
Department of Surgery, Soonchunhyang University Hospital Bucheon, Soonchunhyang University College of Medicine, Bucheon, Republic of Korea.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
15
interventional trials for this specific condition
15 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
15 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.5th percentile).
low confidence · 93.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
15 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
5 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT01531257·RECRUITING·Proteogenomic Monitoring and Assessment of Kidney Transplant Recipients
Conditions: Acute Rejection (AR) of Transplanted Kidney · Chronic Allograft Nephropathy (CAN) · Interstitial Fibrosis (IF) · Tubular Atrophy (TA)·Matched via name phrase
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.
"Crouzon syndrome-acanthosis nigricans syndrome" OR "Crouzon-dermoskeletal syndrome" OR "Chronic kidney allograft nephropathy" OR "Crouzonodermoskeletal syndrome" OR "chronic allograft nephropathy"
MeSH descriptor terms unioned into the query: Crouzon Syndrome With Acanthosis Nigricans
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Crouzon syndrome-acanthosis nigricans syndrome" OR "Crouzon-dermoskeletal syndrome" OR "Chronic kidney allograft nephropathy" OR "Crouzonodermoskeletal syndrome" OR "chronic allograft nephropathy" OR "Crouzon Syndrome With Acanthosis Nigricans"
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: 15 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CAN
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
- Publication count (3243) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T04:09:14.071Z