ORPHA:314679
Cerebrofacioarticular syndrome
Also known as: Van Maldergem syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
323
79.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,472
Distinct authors in sample
Gene link
DCHS1
Moderate
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017813
- UMLS:C1832390
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
Moderate — DCHS1
- LiteraturePresent
323 matched papers (210 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?
Probably — there is moderate evidence for DCHS1.
GenCC classification: Moderate.
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?
323
323 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.
323 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).
210 in the last 10 years · medium confidence · 79.5th percentile (publications denominator)
Phrase hits: 323 · MeSH hits: 0
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.
- 01McNeill 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 - 02Chen J4 papers · 2018
Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Papers in Europe PMC - 03Boecking B3 papers · 2024
Tinnitus Center, Charité Universitaetsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.
Papers in Europe PMC - 04Brueggemann P3 papers · 2024
Tinnitus Center, Charité Universitaetsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.
Papers in Europe PMC - 05Francis 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 - 06Glaesmer H3 papers · 2017
Department of Medical Psychology and Medical Sociology, University of Leipzig, Germany.
Papers in Europe PMC - 07Irvine 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 - 08Liu Y3 papers · 2025
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
Papers in Europe PMC - 09Mao 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 - 10Mazurek 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 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.
"Cerebrofacioarticular syndrome" OR "Van Maldergem syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cerebrofacioarticular syndrome" OR "Van Maldergem syndrome" OR "DCHS1"
Recall-expansion terms: DCHS1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T13:11:47.319Z