ORPHA:658805
Greig cephalopolysyndactyly-contiguous gene syndrome
Also known as: GCP-CGS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
9
19.9th percentile
Trials
0
Interventional, condition-specific
Researchers
125
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by polydactyly, syndactyly (pre‑ or post‑axial polydactyly of hands and/or feet with variable cutaneous syndactyly), craniofacial features (including macrocephaly, frontal bossing, hypertelorism and broad nasal bridge)- that are similar to those observed in patients with Greig cephalopolysyndactyly syndrome-, as well as clear , moderate to severe , and structural brain abnormalities including agenesis/hypoplasia of the corpus callosum. Additional central nervous system anomalies may include ventriculomegaly, aqueductal stenosis and other midline defects. Patients present with larger microdeletions that encompass the GLI3 gene and depending on the size of the deletion, additional clinical features such as hernias and hyperglycemia may be present.
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:0958130
- UMLS:C5925145
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
9 matched papers (5 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?
9
9 papers have ever been indexed 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.
9 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).
5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)
Phrase hits: 9 · MeSH hits: 0
Who's working on it?
125
Distinct author names in 9 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.
- 01Ioana M2 papers · 2022
Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.
Papers in Europe PMC - 02Streață I2 papers · 2022
Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.
Papers in Europe PMC - 03Afenjar A1 paper · 2015
1] Service de Génétique, Hôpital Pitié Salpêtrière, Paris, France [2] Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, AP-HP, Paris, France.
Papers in Europe PMC - 04Albeanu A1 paper · 2022
Department of Pediatric Neurology, Clinical Emergency Children Hospital Brasov, Nicopole Street No. 45, 500063 Brasov, Romania.
Papers in Europe PMC - 05Alcaraz Más L1 paper · 2011Papers in Europe PMC
- 06Amiel J1 paper · 2015
1] Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique -Hôpitaux de Paris (AP-HP), Paris, France [2] Inserm U1163, Hôpital Necker-Enfants Malades, Paris, France [3] Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France.
Papers in Europe PMC - 07Amram D1 paper · 2015
Unité de Génétique Clinique, CH Intercommunal de Créteil, Créteil, France.
Papers in Europe PMC - 08André G1 paper · 2015
Service d'Anatomie Pathologique, CHU Pellegrin, Bordeaux, France.
Papers in Europe PMC - 09Attie-Bitach T1 paper · 2015
1] Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique -Hôpitaux de Paris (AP-HP), Paris, France [2] Inserm U1163, Hôpital Necker-Enfants Malades, Paris, France [3] Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France.
Papers in Europe PMC - 10Baldi M1 paper · 2019
S.C. Human Genetic Laboratory, Ospedali Galliera, Genoa, 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.
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.
"Greig cephalopolysyndactyly-contiguous gene syndrome" OR "GCP-CGS"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Greig cephalopolysyndactyly-contiguous gene syndrome" OR "GCP-CGS" OR "Greig cephalopolysyndactyly syndrome"
Recall-expansion terms: Greig cephalopolysyndactyly syndrome
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-27T20:04:35.599Z