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ORPHA:93262

Crouzon syndrome-acanthosis nigricans syndrome

low confidenceDisorder

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

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — FGFR3

  2. LiteraturePresent

    3,243 matched papers (1,063 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Acanthosis nigricans; Hydrocephalus; Hypertelorism) 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 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)

38

Associated phenotypes · MONDO:0012833

  • Acanthosis nigricans
  • Hydrocephalus
  • Hypertelorism
  • Hypoplasia of the maxilla
  • Conductive hearing impairment

Showing 5 of 38 — 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

8

Drugs / clinical candidates · MONDO_0012833

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

3,243 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).

1,063 in the last 10 years · low confidence

Phrase hits: 3,240 · MeSH hits: 4

Open Europe PMC search

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.

  1. 01
    Wang Y8 papers · 2026

    Department of Medical Ultrasound, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  2. 02
    Zhang S4 papers · 2026

    Department of Ultrasound, Renji Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China.

    Papers in Europe PMC
  3. 03
    Zhou J4 papers · 2026

    Department of Medical Ultrasound, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  4. 04
    Chen X3 papers · 2026

    Department of Medical Ultrasound, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  5. 05
    Hwang NY3 papers · 2023

    Statistics and Data Center, Research Institute for Future Medicine, Samsung Medical Center, Seoul, Republic of Korea.

    Papers in Europe PMC
  6. 06
    Johnson DW3 papers · 2025

    Australasian Kidney Trials Network, The University of Queensland, Queensland, Australia.

    Papers in Europe PMC
  7. 07
    Kim K3 papers · 2023

    Statistics and Data Center, Research Institute for Future Medicine, Samsung Medical Center, Seoul, Republic of Korea.

    Papers in Europe PMC
  8. 08
    Lee JE3 papers · 2023

    Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

    Papers in Europe PMC
  9. 09
    Lee 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
  10. 10
    Lee 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 11 September 2026

15 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94th percentile).

low confidence · 94th 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

Open the complete matched search on ClinicalTrials.gov

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 11 · after dedupe 11 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 11 · dropped 0 · fetched 2026-07-30

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 (11)

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 Crouzon syndrome-acanthosis nigricans syndrome — 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.

"Crouzon syndrome-acanthosis nigricans syndrome" OR "Crouzon-dermoskeletal syndrome" OR "Chronic kidney allograft nephropathy" OR "Crouzonodermoskeletal syndrome" OR "chronic allograft nephropathy"

Run this search on Europe PMC

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