ORPHA:1541
Craniosynostosis, Boston type
Also known as: Craniosynostosis, Warman type · Warman-Mulliken-Hayward syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
419
82.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,139
Distinct authors in sample
Gene link
MSX2
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011481
- OMIM:604757
- UMLS:C1858160
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — MSX2
- LiteraturePresent
419 matched papers (264 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 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)
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?
419
419 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.
419 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).
264 in the last 10 years · medium confidence · 82.8th percentile (publications denominator)
Phrase hits: 419 · MeSH hits: 0
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.
- 01Li 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 - 02Mager JJ4 papers · 2021
Department of Pulmonology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.
Papers in Europe PMC - 03McDonald J4 papers · 2021
HHT Center, Department of Pathology, University of Utah, Salt Lake City, UT, USA.
Papers in Europe PMC - 04Post MC4 papers · 2021
Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.
Papers in Europe PMC - 05Snijder RJ4 papers · 2021
Department of Pulmonology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.
Papers in Europe PMC - 06Zhang 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 - 07Droege 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 - 08Dupuis-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 - 09Happle 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 - 10Hosman 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 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.
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
- NCT07080528·ENROLLING BY INVITATION·Measuring of the Duration of Action of Different Doses of Rocuronium-induced Neuromuscular Block in Infants During Surgical Treatment of Craniosynostosis
Conditions: Neuromuscular Blocking Agents · Residual Neuromuscular Block · Neuromuscular Blockade Monitoring·Matched via name phrase
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.
"Craniosynostosis, Boston type" OR "Craniosynostosis, Warman type" OR "Warman-Mulliken-Hayward syndrome" OR "MSX2-related craniosynostosis" OR "craniosynostosis 2" OR "craniosynostosis type 2"
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" OR "MSX2" OR "syndromic craniosynostosis"
Recall-expansion terms: MSX2, syndromic craniosynostosis
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"craniosynostosis"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-26T17:40:31.174Z