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ORPHA:314679

Cerebrofacioarticular syndrome

low confidenceDisorder

Also known as: Van Maldergem syndrome

Publications

1,071

Trials

0

Interventional, condition-specific

Researchers

1,472

Distinct authors in sample

Gene link

DCHS1

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Cerebrofacioarticular syndrome is a rare multiple anomalies syndrome characterized by mild to severe , a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present , variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.

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.”

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

    Moderate — DCHS1

  2. LiteraturePresent

    1,071 matched papers (801 in last 10 years) Source

  3. Phenotype characterisedPresent

    161 HPO annotations (e.g. Epicanthus; Tented upper lip vermilion; Short palpebral fissure) 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?

Probably — there is moderate evidence for DCHS1.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

161

Associated phenotypes · MONDO:0017813

  • Epicanthus
  • Tented upper lip vermilion
  • Short palpebral fissure
  • Short 4th metacarpal
  • Hypoplasia of the maxilla

Showing 5 of 161 — 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?

1,071

1,071 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.

1,071 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).

801 in the last 10 years · low confidence

Phrase hits: 323 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,472

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
    McNeill H7 papers · 2025

    Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Molecular Genetics, University of Toronto, Toronto, Canada; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Canada.

    Papers in Europe PMC
  2. 02
    Chen J4 papers · 2018

    Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.

    Papers in Europe PMC
  3. 03
    Boecking B3 papers · 2024

    Tinnitus Center, Charité Universitaetsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.

    Papers in Europe PMC
  4. 04
    Brueggemann P3 papers · 2024

    Tinnitus Center, Charité Universitaetsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.

    Papers in Europe PMC
  5. 05
    Francis F3 papers · 2024

    INSERM UMRS 839 Paris, France ; Sorbonne Universités, Université Pierre et Marie Curie Paris, France ; Institut du Fer à Moulin Paris, France.

    Papers in Europe PMC
  6. 06
    Glaesmer H3 papers · 2017

    Department of Medical Psychology and Medical Sociology, University of Leipzig, Germany.

    Papers in Europe PMC
  7. 07
    Irvine KD3 papers · 2019

    Howard Hughes Medical Institute, Waksman Institute and Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA.

    Papers in Europe PMC
  8. 08
    Liu Y3 papers · 2025

    Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  9. 09
    Mao Y3 papers · 2019

    Howard Hughes Medical Institute, Waksman Institute and Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA.

    Papers in Europe PMC
  10. 10
    Mazurek B3 papers · 2024

    Tinnitus Center, Charité Universitaetsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.

    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 Cerebrofacioarticular 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.

("Cerebrofacioarticular syndrome" OR "Van Maldergem syndrome") OR ("DCHS1" OR "DCHS1 syndrome" OR "DCHS1-related")

Run this search on Europe PMC

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

"Cerebrofacioarticular syndrome" OR "Van Maldergem syndrome"

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

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 (1071) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:11:47.319Z