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ORPHA:85199

Craniosynostosis-anal anomalies-porokeratosis syndrome

medium confidenceDisorder

Also known as: CAP syndrome · CDAGS syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

226

65.2th percentile

Trials

0

Interventional, condition-specific

Researchers

405

Distinct authors in sample

Gene link

RNU12

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).

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.

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — RNU12

  2. LiteraturePresent

    226 matched papers (167 in last 10 years) Source

  3. Phenotype characterisedPresent

    61 HPO annotations (e.g. Rectovaginal fistula; Short ribs; Malar flattening) 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 trialPartial

    None under the specific name; 16 for broader category craniosynostosis

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 (RNU12).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

61

Associated phenotypes · MONDO:0011287

  • Rectovaginal fistula
  • Short ribs
  • Malar flattening
  • Kyphosis
  • Sensorineural hearing impairment

Showing 5 of 61 — 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?

226

226 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=3967) is 59.

226 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).

167 in the last 10 years · medium confidence · 65.2th percentile (publications denominator)

Phrase hits: 64 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

405

Distinct author names in 64 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.

  1. 01
    Das C4 papers · 2021

    Department of Chemistry, Purdue University , 560 Oval Drive, West Lafayette, Indiana 47907, United States.

    Papers in Europe PMC
  2. 02
    Liu Y3 papers · 2024

    National Engineering Laboratory for Digital and Material Technology of Stomatology, Department of Preventive Dentistry, National Center of Stomatology, National Clinical Research Center for Oral Diseases, Peking University School and Hospital of Stomatology, Beijing, China.

    Papers in Europe PMC
  3. 03
    Paul LN3 papers · 2015

    Bindley Biosciences Center, Purdue University , West Lafayette, Indiana 47907, United States.

    Papers in Europe PMC
  4. 04
    Abdalla K2 papers · 2009
    Papers in Europe PMC
  5. 05
    Boycott KM2 papers · 2013

    Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada

    Papers in Europe PMC
  6. 06
    Carter MT2 papers · 2013

    Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada

    Papers in Europe PMC
  7. 07
    Cassidy N2 papers · 2009
    Papers in Europe PMC
  8. 08
    Cormier-Daire V2 papers · 2023

    Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.

    Papers in Europe PMC
  9. 09
    Davies CW2 papers · 2014

    Department of Chemistry, Purdue University , West Lafayette, Indiana 47907, United States.

    Papers in Europe PMC
  10. 10
    Frilander MJ2 papers · 2026

    Institute of Biotechnology, University of Helsinki, Finland.

    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). 16 trials are registered for craniosynostosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

16 interventional trials matched craniosynostosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: craniosynostosis

16

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.

Recruiting under the broader category

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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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 (40)

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 Craniosynostosis-anal anomalies-porokeratosis 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.

("Craniosynostosis-anal anomalies-porokeratosis syndrome" OR "CAP syndrome" OR "CDAGS syndrome") OR (MESH:"Craniosynostosis, anal anomalies, and porokeratosis") OR ("RNU12" OR "RNU12 syndrome" OR "RNU12-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Craniosynostosis, anal anomalies, and porokeratosis

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

"Craniosynostosis-anal anomalies-porokeratosis syndrome" OR "CAP syndrome" OR "CDAGS syndrome" OR "Craniosynostosis, anal anomalies, and porokeratosis"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"craniosynostosis"

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (226) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T02:49:53.565Z