ORPHA:1647
Oculocerebrocutaneous syndrome
Also known as: Delleman syndrome · Delleman-Oorthuys syndrome · Leichtman-Wood-Rohn syndrome · OCCS · Orbital cyst with cerebral and focal dermal malformations
Publications
343
Trials
0
Interventional, condition-specific
Researchers
1,153
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an .
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:0008108
- MeSH:C538088
- OMIM:164180
- UMLS:C0796092
Additional Mondo synonyms (2)
oculocerebrocutaneous syndrome · orbital cyst with cerebral and focal dermal malformations
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
343 matched papers (176 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?
343
343 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.
343 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).
176 in the last 10 years · low confidence
Phrase hits: 343 · MeSH hits: 0
Who's working on it?
1,153
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 · 2023
Department of Head and Neck Surgery, Hunan provincial Tumor Hospital, Changsha 410013, People's Republic of China.
Papers in Europe PMC - 02Moog U4 papers · 2018
Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.
Papers in Europe PMC - 03Brennan P3 papers · 2025
Genomic Epidemiology Branch, International Agency for Research on Cancer, World Health Organization, Lyon, France.
Papers in Europe PMC - 04Dobyns WB3 papers · 2018
Department of Pediatrics, University of Washington, Seattle, Washington.
Papers in Europe PMC - 05Wang Y3 papers · 2024
Massachusetts General Hospital, Harvard Medical School, Department of Surgery, USA.
Papers in Europe PMC - 06Abbate V2 papers · 2025
Maxillofacial Surgery Unit, Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples Federico II, 80131 Naples, Italy.
Papers in Europe PMC - 07Agrawal V2 papers · 2025
Department of Surgery, Driscoll Children's Hospital, Corpus Christi, TX, USA.
Papers in Europe PMC - 08Alemany L2 papers · 2025
Cancer Epidemiology Research Programme, Catalan Institute of Oncology, L'Hospitalet de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública, Madrid, Spain.
Papers in Europe PMC - 09Arora V2 papers · 2010
Orbit, Oculoplasty and Oncology Clinic, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India
Papers in Europe PMC - 10Bonavolontà P2 papers · 2025
Maxillofacial Surgery Unit, Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples Federico II, 80131 Naples, Italy.
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.
"Oculocerebrocutaneous syndrome" OR "Delleman syndrome" OR "Delleman-Oorthuys syndrome" OR "Leichtman-Wood-Rohn syndrome" OR "Orbital cyst with cerebral and focal dermal malformations"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Oculocerebrocutaneous syndrome" OR "Delleman syndrome" OR "Delleman-Oorthuys syndrome" OR "Leichtman-Wood-Rohn syndrome" OR "Orbital cyst with cerebral and focal dermal malformations"
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
Synonyms dropped by stoplist: OCCS
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T17:51:32.566Z