ORPHA:66631
CEDNIK syndrome
Also known as: Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
Publications
103
59.8th percentile
Trials
0
Interventional, condition-specific
Researchers
680
Distinct authors in sample
Gene link
SNAP29
Strong
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012290
- MeSH:C537943
- OMIM:609528
- UMLS:C1836033
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — SNAP29
- LiteraturePresent
103 matched papers (69 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 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)
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?
103
103 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=5449) is 41.
103 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).
69 in the last 10 years · medium confidence · 59.8th percentile (publications denominator)
Phrase hits: 102 · MeSH hits: 1
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.
- 01McDonald-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 - 02Emanuel BS12 papers · 2023
Department of Pediatrics, The Children's Hospital of Philadelphia, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA.
Papers in Europe PMC - 03Zackai EH9 papers · 2023
Department of Pediatrics, The Children's Hospital of Philadelphia, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA.
Papers in Europe PMC - 04Crowley 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 - 05Morrow BE5 papers · 2020
Department of Genetics, Albert Einstein College of Medicine, The Bronx, New York, New York, USA.
Papers in Europe PMC - 06Sprecher 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 - 07Vermeesch JR5 papers · 2020
Department of Human Genetics, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 08Horowitz M4 papers · 2016
Department of Cell Research and Immunology, Tel Aviv University, Tel Aviv, Israel.
Papers in Europe PMC - 09McGinn DE4 papers · 2023
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Papers in Europe PMC - 10Sullivan 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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.
"CEDNIK syndrome" OR "Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome"
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" OR "SNAP29"
Recall-expansion terms: SNAP29
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-27T01:22:02.627Z