ORPHA:380
Greig cephalopolysyndactyly syndrome
Also known as: GCPS
Clinical definition (Orphanet)
A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple anomaly syndrome.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
476
476 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.
476 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).
219 in the last 10 years · medium confidence · 81.4th 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.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (GLI3).
GenCC classification: Definitive.
Who's working on it?
1,498
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.
- 01Biesecker LG11 papers · 2023
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: lesb@mail.nih.gov.
Papers in Europe PMC - 02Li Y6 papers · 2025
Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Pediatric Translational Medicine Institute, Shanghai, China.
Papers in Europe PMC - 03
- 04Liu Y5 papers · 2025
Department of Hand Surgery the Fifth Hospital of Harbin, Harbin, China.
Papers in Europe PMC - 05Zhang X5 papers · 2022
Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Papers in Europe PMC - 06Ahmad W4 papers · 2024
Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.
Papers in Europe PMC - 07Ali A4 papers · 2024
Centre for Genetic Disorders, Faculty of Science, Banaras Hindu University, Varanasi 221005, U.P., India.
Papers in Europe PMC - 08Kalff-Suske M4 papers · 2003
Medizinisches Zentrum für Humangenetik, Philipps-Universität Marburg, D-35037 Marburg, Germany.
Papers in Europe PMC - 09Singh SK4 papers · 2024
G S Memorial Plastic Surgery Hospital & Trauma Center, Varanasi, India.
Papers in Europe PMC - 10Wang B4 papers · 2023
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, Hubei Province, China.
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.
"Greig cephalopolysyndactyly syndrome" OR "GLI3-related Greig cephalopolysyndactyly spectrum" OR "Greig cephalosyndactyly syndrome" OR "Greig's syndrome" OR "polysyndactyly with peculiar skull shape"
MeSH descriptor terms unioned into the query: Greig cephalopolysyndactyly syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Greig cephalopolysyndactyly syndrome" OR "GLI3-related Greig cephalopolysyndactyly spectrum" OR "Greig cephalosyndactyly syndrome" OR "Greig's syndrome" OR "polysyndactyly with peculiar skull shape" OR "GLI3"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C537300 OMIM:175700 UMLS:C0265306 NCIT:C35255
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: GCPS
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