ORPHA:2050
Cole-Carpenter syndrome
Also known as: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
Publications
124
67th percentile
Trials
0
Interventional, condition-specific
Researchers
874
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
An extremely rare form of bone characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).
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:0016085
- MeSH:C535963
- UMLS:C1862178
- NCIT:C130985
Additional Mondo synonyms (1)
bone fragility-craniosynostosis-proptosis-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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
124 matched papers (104 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?
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?
124
124 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.
124 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).
104 in the last 10 years · high confidence · 67th percentile (publications denominator)
Phrase hits: 124 · MeSH hits: 0
Who's working on it?
874
Distinct author names in 124 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.
- 01Micha D5 papers · 2025
Department of Clinical Genetics, Amsterdam Movement Sciences, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Papers in Europe PMC - 02Savarirayan R5 papers · 2023
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Papers in Europe PMC - 03Bloch-Zupan A3 papers · 2014
1] Faculty of Dentistry, University of Strasbourg, Strasbourg, France [2] Reference Centre for Orodental Manifestations of Rare Diseases, Pôle de Médecine et Chirurgie Bucco-Dentaires, Hôpitaux Universitaires de Strasbourg, Strasbourg, France [3] Institute of Genetics and Molecular and Cellular Biology (IGBMC), Inserm U964, CNRS-UdS UMR7104, Illkirch, France.
Papers in Europe PMC - 04Brandi ML3 papers · 2021
F.I.R.M.O. Fondazione Italiana per la Ricerca sulle Malattie dell'Osso, Italian Foundation for the Research on Bone Diseases, 50141 Florence, Italy.
Papers in Europe PMC - 05Bravenboer N3 papers · 2022
Department of Clinical Chemistry, Bone and Calcium Metabolism Lab, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Papers in Europe PMC - 06Cormier-Daire V3 papers · 2023
Université Paris-Descartes, Sorbonne Paris Cité, Institut Imagine and INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France. Electronic address: valerie.cormier-daire@inserm.fr.
Papers in Europe PMC - 07Eekhoff EMW3 papers · 2022
Department of Internal Medicine, Section Endocrinology, Amsterdam Bone Center, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Papers in Europe PMC - 08Forlino A3 papers · 2025
Biochemistry Unit, Department of Molecular Medicine, University of Pavia, Italy.
Papers in Europe PMC - 09Högler W3 papers · 2022
Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.
Papers in Europe PMC - 10Liu Y3 papers · 2023
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
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.
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.
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.
"Cole-Carpenter syndrome" OR "Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cole-Carpenter syndrome" OR "Bone fragility-craniosynostosis-proptosis-hydrocephalus 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T18:56:10.379Z