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ORPHA:289

Ellis-Van Creveld syndrome

low confidenceDisorder

Also known as: Chondroectodermal dysplasia · Mesodermic dysplasia

Publications

2,114

Trials

0

Interventional, condition-specific

Researchers

1,099

Distinct authors in sample

Gene link

EVC, EVC2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare chondral and ectodermal characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.

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 (7)

EVC · Ellis Van Creveld Syndrome · Ellis Van Creveld syndrome · Ellis-VAN Creveld syndrome · Ellis-van Creveld syndrome · Mesoectodermal dysplasia · mesodermic dysplasia

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

    Definitive — EVC, EVC2

  2. LiteraturePresent

    2,114 matched papers (1,073 in last 10 years) Source

  3. Phenotype characterisedPresent

    80 HPO annotations (e.g. Intellectual disability; Abnormal alveolar ridge morphology; Acetabular spurs) Source

  4. Animal modelPresent

    2 genotype models (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 (EVC, EVC2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

80

Associated phenotypes · MONDO:0009162

  • Intellectual disability
  • Abnormal alveolar ridge morphology
  • Acetabular spurs
  • Ectodermal dysplasia
  • Hypodontia

Showing 5 of 80 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

2,114

2,114 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.

2,114 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).

1,073 in the last 10 years · low confidence

Phrase hits: 1,833 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,099

Distinct author names in 200 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
    Ruiz-Perez VL6 papers · 2026

    Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM), Consejo Superior de Investigaciones Científicas (CSIC)-UAM, Madrid, Spain.

    Papers in Europe PMC
  2. 02
    Chen Y5 papers · 2025

    College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian Province, 350004, China.

    Papers in Europe PMC
  3. 03
    Palencia-Campos A5 papers · 2024

    Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM), Consejo Superior de Investigaciones Científicas (CSIC)-UAM, Madrid, Spain.

    Papers in Europe PMC
  4. 04
    Wang J5 papers · 2026

    Endocrinology Department, Huai'an Chuzhou Hospital of Traditional Chinese Medicine, Huai'an, China.

    Papers in Europe PMC
  5. 05
    Bozzi Y4 papers · 2026

    Institute of Neuroscience, National Council of Research, Pisa, Italy.

    Papers in Europe PMC
  6. 06
    Chelini G4 papers · 2026

    Institute of Neuroscience, National Council of Research, Pisa, Italy. gabriele.chelini@unitn.it.

    Papers in Europe PMC
  7. 07
    Li J4 papers · 2025

    Emergency Department, Huai'an Hospital of Huai'an City, Huai'an, China. 784499701@qq.com.

    Papers in Europe PMC
  8. 08
    Liu Y4 papers · 2025

    Center for Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  9. 09
    Berardi N3 papers · 2026

    Institute of Neuroscience, National Council of Research, Pisa, Italy.

    Papers in Europe PMC
  10. 10
    Canicatti V3 papers · 2026

    Institute of Neuroscience, National Council of Research, Pisa, Italy.

    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 2026-07-29

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 Ellis-Van Creveld 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.

("Ellis-Van Creveld syndrome" OR "Chondroectodermal dysplasia" OR "Mesodermic dysplasia" OR "Ellis Van Creveld Syndrome" OR "Mesoectodermal dysplasia") OR ("EVC syndrome" OR "EVC-related" OR "EVC2" OR "EVC2 syndrome" OR "EVC2-related")

Run this search on Europe PMC

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

"Ellis-Van Creveld syndrome" OR "Chondroectodermal dysplasia" OR "Mesodermic dysplasia" OR "Ellis Van Creveld Syndrome" OR "Mesoectodermal dysplasia"

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

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EVC

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 (2114) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:16:57.124Z