ORPHA:3152
Sclerosteosis
Also known as: Cortical hyperostosis-syndactyly syndrome
Publications
961
Trials
0
Interventional, condition-specific
Researchers
1,090
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.
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:0017838
- MeSH:C537525
- UMLS:C0265301
- NCIT:C131133
Additional Mondo synonyms (2)
cortical hyperostosis with syndactyly · cortical hyperostosis-syndactyly 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
961 matched papers (487 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?
961
961 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
961 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).
487 in the last 10 years · low confidence
Phrase hits: 961 · MeSH hits: 0
Who's working on it?
1,090
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.
- 01Van Hul W12 papers · 2024
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Papers in Europe PMC - 02Boudin E7 papers · 2024
Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Papers in Europe PMC - 03Kneissel M7 papers · 2024
Novartis Institutes for BioMedical Research, 4002 Basel, Switzerland.
Papers in Europe PMC - 04Kramer I6 papers · 2024
Novartis Institutes for BioMedical Research, 4002 Basel, Switzerland.
Papers in Europe PMC - 05Li L6 papers · 2025
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiaotong University Affiliated Sixth People's Hospital, Yishan Road 600, Shanghai 200233, China.
Papers in Europe PMC - 06Papapoulos SE6 papers · 2025
Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands. m.v.iken@lumc.nl
Papers in Europe PMC - 07Appelman-Dijkstra NM5 papers · 2025
Department of Medicine, Division of Endocrinology, and Center for Endocrine Tumors Leiden, Leiden, The Netherlands.
Papers in Europe PMC - 08Hendrickx G5 papers · 2024
Department of Human Genetics, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 09Liu X5 papers · 2025
Department of Oral and Maxillofacial Surgery, Stomatological Hospital, Southern Medical University, Guangzhou, China.
Papers in Europe PMC - 10Mortier G5 papers · 2024
Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
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.
low 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.
"Sclerosteosis" OR "Cortical hyperostosis-syndactyly syndrome" OR "cortical hyperostosis with syndactyly"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sclerosteosis" OR "Cortical hyperostosis-syndactyly syndrome" OR "cortical hyperostosis with syndactyly"
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (961) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T22:19:59.555Z