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ORPHA:1538

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

high confidenceDisorder

Also known as: Braddock-Jones-Superneau syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

3

12.1th percentile

Trials

0

Interventional, condition-specific

Researchers

10

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder characterized by sagittal craniosynostosis, Dandy-Walker , hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable .

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

craniosynostosis-Dandy-Walker malformation-hydrocephalus 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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3 matched papers (2 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 120 for broader category hydrocephalus

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

3

3 papers have ever been indexed 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.

3 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).

2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)

Phrase hits: 3 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

10

Distinct author names in 3 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
    Al Kaissi A1 paper · 2023

    National Medical Research Center for Traumatology and Orthopedics n.a. G.A. Ilizarov, 640014 Kurgan, Russia.

    Papers in Europe PMC
  2. 02
    Al Kaissi H1 paper · 2023

    Clinic for Dermatology and Allergology, Luisen Hospital, 52064 Aachen, Germany.

    Papers in Europe PMC
  3. 03
    Brockmeyer DL1 paper · 2016

    Division of Pediatric Neurosurgery, Department of Neurosurgery, Primary Children's Hospital, University of Utah, Salt Lake City, Utah; and.

    Papers in Europe PMC
  4. 04
    Chehida FB1 paper · 2023

    Ibn Zohr Institute of Diagnostic Radiology, Cite Al Khadra, Tunis 1003, Tunisia.

    Papers in Europe PMC
  5. 05
    Grill F1 paper · 2023

    Pediatric Department, Orthopedic Hospital of Speising, 1130 Vienna, Austria.

    Papers in Europe PMC
  6. 06
    Guan J1 paper · 2016

    Division of Pediatric Neurosurgery, Department of Neurosurgery, Primary Children's Hospital, University of Utah, Salt Lake City, Utah; and.

    Papers in Europe PMC
  7. 07
    Guben A1 paper · 2023

    Department of Orthopedic Department, Saint-Petersburg State University Hospital, 199034 St. Petersburg, Russia.

    Papers in Europe PMC
  8. 08
    Kircher SG1 paper · 2023

    Center of Medical Patho-Biochemistry and Genetics, Medical University of Vienna, 1090 Vienna, Austria.

    Papers in Europe PMC
  9. 09
    Riva-Cambrin J1 paper · 2016

    Department of Clinical Neurosciences, Foothills Medical Centre, University of Calgary, Alberta, Canada.

    Papers in Europe PMC
  10. 10
    Ryabykh S1 paper · 2023

    National Medical Research Center for Traumatology and Orthopedics n.a. G.A. Ilizarov, 640014 Kurgan, Russia.

    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). 120 trials are registered for hydrocephalus, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

high 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.

120 interventional trials matched hydrocephalus, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: hydrocephalus

120

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

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2026-07-26

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.

"Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome" OR "Braddock-Jones-Superneau syndrome"

Run this search on Europe PMC

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

"Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome" OR "Braddock-Jones-Superneau syndrome" OR "syndromic craniosynostosis"

Recall-expansion terms: syndromic craniosynostosis

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

Parent-category trials query:

"hydrocephalus"

Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-26T17:39:58.252Z