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ORPHA:1541

Craniosynostosis, Boston type

low confidenceDisorder

Also known as: Craniosynostosis, Warman type · Warman-Mulliken-Hayward syndrome

Publications

5,286

Trials

0

Interventional, condition-specific

Researchers

1,139

Distinct authors in sample

Gene link

MSX2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and . Intelligence is normal.

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.

Additional Mondo synonyms (5)

CRS2 · MSX2-related craniosynostosis · craniosynostosis 2 · craniosynostosis type 2 · craniosynostosis, Warman type

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — MSX2

  2. LiteraturePresent

    5,286 matched papers (2,722 in last 10 years) Source

  3. Phenotype characterisedPresent

    20 HPO annotations (e.g. Triphalangeal thumb; Hypermetropia; Visual field defect) 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 trialPartial

    None under the specific name; 16 for broader category craniosynostosis

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 (MSX2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

20

Associated phenotypes · MONDO:0011481

  • Triphalangeal thumb
  • Hypermetropia
  • Visual field defect
  • Craniosynostosis
  • Brachydactyly

Showing 5 of 20 — 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?

5,286

5,286 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,286 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).

2,722 in the last 10 years · low confidence

Phrase hits: 419 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,139

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
    Li J4 papers · 2025

    Institute of Biochemistry and Molecular Medicine, University of Bern, Bühlstrasse 28, 3012, Bern, Switzerland. jin.li@ibmm.unibe.ch.

    Papers in Europe PMC
  2. 02
    Mager JJ4 papers · 2021

    Department of Pulmonology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.

    Papers in Europe PMC
  3. 03
    McDonald J4 papers · 2021

    HHT Center, Department of Pathology, University of Utah, Salt Lake City, UT, USA.

    Papers in Europe PMC
  4. 04
    Post MC4 papers · 2021

    Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.

    Papers in Europe PMC
  5. 05
    Snijder RJ4 papers · 2021

    Department of Pulmonology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.

    Papers in Europe PMC
  6. 06
    Zhang X4 papers · 2024

    Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Pediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy, Sichuan University, Chengdu, 610041, China.

    Papers in Europe PMC
  7. 07
    Droege F3 papers · 2026

    VASCERN HHT Reference Centre, Department of Otorhinolaryngology, Head and Neck Surgery, Essen University Hospital, University Duisburg-Essen, Hufelandstrasse 55, 45122, Essen, Germany.

    Papers in Europe PMC
  8. 08
    Dupuis-Girod S3 papers · 2025

    VASCERN HHT Reference Center and Genetics Department, National HHT Reference Center, Hospices Civils de Lyon, Femme-Mère-Enfants Hospital, Bron, France.

    Papers in Europe PMC
  9. 09
    Happle R3 papers · 2013

    Department of Dermatology, Philipp University of Marburg, Deutschhaus-Str. 9, 35033 Marburg, Germany. happle@med.uni-marburg.de

    Papers in Europe PMC
  10. 10
    Hosman AE3 papers · 2021

    Department of Pulmonology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.

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

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.

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

Broader category: craniosynostosis

16

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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Craniosynostosis, Boston 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.

("Craniosynostosis, Boston type" OR "Craniosynostosis, Warman type" OR "Warman-Mulliken-Hayward syndrome" OR "MSX2-related craniosynostosis" OR "craniosynostosis 2" OR "craniosynostosis type 2") OR ("MSX2" OR "MSX2 syndrome" OR "MSX2-related")

Run this search on Europe PMC

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

"Craniosynostosis, Boston type" OR "Craniosynostosis, Warman type" OR "Warman-Mulliken-Hayward syndrome" OR "MSX2-related craniosynostosis" OR "craniosynostosis 2" OR "craniosynostosis type 2"

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

Parent-category trials query:

"craniosynostosis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CRS2

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 (5286) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T17:40:31.174Z