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ORPHA:952

Acrofacial dysostosis, Weyers type

high confidenceDisorder

Also known as: Curry-Hall syndrome · Weyers acrodental dysostosis · Weyers acrofacial dysostosis

Publications

868

84.5th percentile

Trials

0

Interventional, condition-specific

Researchers

890

Distinct authors in sample

Gene link

EVC, EVC2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare ectodermal syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an manner.

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 (1)

curry-Hall 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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — EVC, EVC2

  2. LiteraturePresent

    868 matched papers (577 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Abnormality of the dentition; Abnormal oral frenulum morphology; Clinodactyly of the 5th finger) 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 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)

31

Associated phenotypes · MONDO:0008673

  • Abnormality of the dentition
  • Abnormal oral frenulum morphology
  • Clinodactyly of the 5th finger
  • Small nail
  • Hypoplastic toenails

Showing 5 of 31 — 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?

868

868 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.

868 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).

577 in the last 10 years · high confidence · 84.5th percentile (publications denominator)

Phrase hits: 140 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

890

Distinct author names in 140 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 VL8 papers · 2023

    Institute of Human Genetics, Newcastle University, Newcastle-upon-Tyne, United Kingdom.

    Papers in Europe PMC
  2. 02
    Zhang H8 papers · 2025

    Department of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, MI, USA.

    Papers in Europe PMC
  3. 03
    Liu Y7 papers · 2025

    Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.

    Papers in Europe PMC
  4. 04
    De Luca A4 papers · 2023

    Medical Genetics Unit, Casa Sollievo della Sofferenza Foundation, IRCCS, San Giovanni Rotondo, 71013, Italy.

    Papers in Europe PMC
  5. 05
    Lapunzina P4 papers · 2024

    CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability.

    Papers in Europe PMC
  6. 06
    Marino B4 papers · 2023

    Department of Pediatrics, Obstetrics and Gynecology, "Sapienza" University of Rome, Rome, Italy.

    Papers in Europe PMC
  7. 07
    Mishina Y4 papers · 2021

    Department of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, MI, USA.

    Papers in Europe PMC
  8. 08
    Palencia-Campos A4 papers · 2024

    Instituto de Investigaciones Biomédicas "Alberto Sols," Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain.

    Papers in Europe PMC
  9. 09
    Rohatgi R4 papers · 2021

    Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address: rrohatgi@stanford.edu.

    Papers in Europe PMC
  10. 10
    Torrente I4 papers · 2023

    Medical Genetics Unit, Casa Sollievo della Sofferenza Foundation, IRCCS, San Giovanni Rotondo, 71013, 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.

high 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.

Broader category acrofacial dysostosis also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: acrofacial dysostosis

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 Acrofacial dysostosis, Weyers type — 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.

("Acrofacial dysostosis, Weyers type" OR "Curry-Hall syndrome" OR "Weyers acrodental dysostosis" OR "Weyers acrofacial dysostosis") 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):

"Acrofacial dysostosis, Weyers type" OR "Curry-Hall syndrome" OR "Weyers acrodental dysostosis" OR "Weyers acrofacial dysostosis"

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

Parent-category trials query:

"acrofacial dysostosis"

Query health: ok — strategies attempted: phrase; 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

Ingested 2026-07-26T16:00:15.173Z