ORPHA:659396
Cohen-Gibson syndrome
Also known as: EED-related overgrowth syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A rare PRC-2 complex-related overgrowth spectrum disorder characterized by tall stature, (more severe than other diseases-Weaver syndrome and Imagawa-Matsumoto syndome in the spectrum), persistent features (including hypertelorism, large fleshy ears, retrognathia, crease between the mouth and the chin) that remains distinguishable in adulthood, severe musculoskeletal abnormalities (including kyphosis and/or scoliosis, abnormalities of the cervical spine, restricted joint movement and unusually large hands). Cardiac problems, cryptorchidism and umbilical hernias are more frequent whereas presence of tumors is less frequent compared to other diseases in the spectrum.
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.
Is anyone studying this?
75
75 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=183) is 38.
75 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
75 in the last 10 years · high confidence · 62.3th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (EED).
GenCC classification: Strong.
Who's working on it?
763
Distinct author names in 75 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.
- 01Sadikovic B10 papers · 2025
Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 02Gibson WT7 papers · 2025
Department of Medical Genetics, University of British Columbia and British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.
Papers in Europe PMC - 03Haghshenas S7 papers · 2024
Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
Papers in Europe PMC - 04Levy MA7 papers · 2025
Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 05McConkey H7 papers · 2025
Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 06Fahrner JA6 papers · 2024
Departments of Genetic Medicine and Pediatrics, Johns Hopkins University, Baltimore, MD 21205, USA.
Papers in Europe PMC - 07Kerkhof J6 papers · 2024
Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 08Relator R6 papers · 2025
Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 09Rooney K5 papers · 2025
Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 10Alders M4 papers · 2025
Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"Cohen-Gibson syndrome" OR "EED-related overgrowth syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cohen-Gibson syndrome" OR "EED-related overgrowth syndrome" OR "EED"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:617561 UMLS:C4479654
Query health: suspect — strategies attempted: phrase, recall-expansion; 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