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ORPHA:66631

CEDNIK syndrome

low confidenceDisorder

Also known as: Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

Publications

2,034

Trials

0

Interventional, condition-specific

Researchers

680

Distinct authors in sample

Gene link

SNAP29

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, , Ichthyosis, and palmoplantar Keratoderma.

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.

Additional Mondo synonyms (1)

cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — SNAP29

  2. LiteraturePresent

    2,034 matched papers (1,610 in last 10 years) Source

  3. Phenotype characterisedPresent

    57 HPO annotations (e.g. Microcephaly; Global developmental delay; Ichthyosis) Source

  4. Animal modelPresent

    3 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (SNAP29).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

57

Associated phenotypes · MONDO:0012290

  • Microcephaly
  • Global developmental delay
  • Ichthyosis
  • Proteinuria
  • Nephrotic syndrome

Showing 5 of 57 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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?

2,034

2,034 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.

2,034 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).

1,610 in the last 10 years · low confidence

Phrase hits: 102 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

680

Distinct author names in 103 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
    McDonald-McGinn DM13 papers · 2023

    Department of Pediatrics, The Children's Hospital of Philadelphia, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA.

    Papers in Europe PMC
  2. 02
    Emanuel BS12 papers · 2023

    Department of Pediatrics, The Children's Hospital of Philadelphia, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA.

    Papers in Europe PMC
  3. 03
    Zackai EH9 papers · 2023

    Department of Pediatrics, The Children's Hospital of Philadelphia, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA.

    Papers in Europe PMC
  4. 04
    Crowley TB8 papers · 2023

    Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia 19104, USA.

    Papers in Europe PMC
  5. 05
    Morrow BE5 papers · 2020

    Department of Genetics, Albert Einstein College of Medicine, The Bronx, New York, New York, USA.

    Papers in Europe PMC
  6. 06
    Sprecher E5 papers · 2016

    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel. e_sprecher@rambam.health.gov.il

    Papers in Europe PMC
  7. 07
    Vermeesch JR5 papers · 2020

    Department of Human Genetics, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  8. 08
    Horowitz M4 papers · 2016

    Department of Cell Research and Immunology, Tel Aviv University, Tel Aviv, Israel.

    Papers in Europe PMC
  9. 09
    McGinn DE4 papers · 2023

    Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  10. 10
    Sullivan KE4 papers · 2018

    Division of Allergy and Immunology, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, 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).

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.

low 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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

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 CEDNIK 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.

("CEDNIK syndrome" OR "Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome") OR (MESH:"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome") OR ("SNAP29" OR "SNAP29 syndrome" OR "SNAP29-related" OR "CEDNIK" OR "CEDNIK-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

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

"CEDNIK syndrome" OR "Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome" OR "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"

Study-type breakdown: 0 interventional · 0 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

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
  • Publication count (2034) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:22:02.627Z