ORPHA:2095
Gorlin-Chaudhry-Moss syndrome
Also known as: Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome · Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome · GCM syndrome
Publications
42
37.7th percentile
Trials
0
Interventional, condition-specific
Researchers
264
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.
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.
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
42 matched papers (23 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
42
42 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=3967) is 59.
42 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
23 in the last 10 years · medium confidence · 37.7th percentile (publications denominator)
Phrase hits: 42 · MeSH hits: 0
Who's working on it?
264
Distinct author names in 42 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.
- 01Adolphs N2 papers · 2017
Department of Craniomaxillofacial Surgery, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
Papers in Europe PMC - 02Faivre L2 papers · 2022
Inserm UMR 1231 GAD, Genetics of Developmental Disorders, Université de Bourgogne-Franche Comté, Dijon, France.
Papers in Europe PMC - 03Graul-Neumann L2 papers · 2017
Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
Papers in Europe PMC - 04Mundlos S2 papers · 2023
Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 05Zhao J2 papers · 2020
Department of Ophthalmology, The Second Hospital of Jilin University, Changchun City, China.
Papers in Europe PMC - 06Agarwal AK1 paper · 2018
Division of Nutrition Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Papers in Europe PMC - 07Ahluwalia AS1 paper · 2015
Assistant Professor, Department of Conservative Dentistry and Endodontics, Vyas Dental College , Jodhpur, Rajasthan, India .
Papers in Europe PMC - 08Aich A1 paper · 2018
Department of Cellular Biochemistry, University Medical Center Göttingen, Göttingen, D-37073, Germany.
Papers in Europe PMC - 09
- 10Altmüller J1 paper · 2017
Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 18 · after dedupe 18 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 18 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (18)
- ctis·2025-523509-13-00·Authorised, ongoing·Phase 2, Open-Label, Long-Term, Extension (OLE) Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children with Hypochondroplasia: ACCEL OLE
skipped — LLM skipped (--skip-llm)
- ctis·2024-519960-42-00·Authorised, ongoing·EPIK-P4: A Phase II single arm study to assess the efficacy, safety and pharmacokinetics of alpelisib (BYL719) in pediatric and adult patients with PIK3CA-related overgrowth spectrum (PROS)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521405-40-01·Authorised, ongoing·Remifentanil versus rocuronium for optimizing video laryngoscopy assisted tracheal intubation in patients undergoing general anaesthesia - a multicentre randomised controlled trial
The ROCVIDEO trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-514949-11-00·Authorised, ongoing·Apneic oxygenation with high-flow nasal oxygenation after preoxygenation with noninvasive ventilation before intubation in hypoxemic patients in intensive care unit. A multicenter randomized controlled trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-515965-32-00·Cancelled·Randomised, double-blind study comparing the analgesic efficacy of a lidocaine-prilocaine combination with lidocaine alone as local anesthesia for dental procedures in participants with MC1R mutation
skipped — LLM skipped (--skip-llm)
- ctis·2024-517976-39-00·Cancelled·A multicentre clinical trial: Alveolar bone augmentation using MSCs and biphasic calcium phosphate granules prior to dental implants (Behandling Maxillofacial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-513591-18-00·Cancelled·A randomized, double-blind, parallel-group, active-controlled comparative study to evaluate the efficacy, safety, pharmacokinetics, and immunogenicity of LY06006 compared with EU-Prolia in postmenopausal women with osteoporosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-517402-28-00·Authorised, ongoing·Role of antibiotics in conjunction with oral bone augmentation procedures (BAS20)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517807-35-00·Cancelled·Randomised, double-blind, placebo-controlled, active-treatment clinical trial to assess the analgesic efficacy and safety of an oral combination of ibuprofen (arginine) -tramadol HCl administered to patients with moderate to severe pain after undergoing dental surgery.
skipped — LLM skipped (--skip-llm)
- ctis·2024-514642-37-00·Authorised, ongoing·The effect of handheld-multimedia versus midazolam premedication on the level of perioperative anxiety in pediatric day-care. A randomized controlled trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-512632-30-00·Authorised, ongoing·A prospective, open-label, genotype-match controlled, multicenter clinical trial to investigate the efficacy and safety of intra-amniotic ER004 as a prenatal treatment for male subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED)
skipped — LLM skipped (--skip-llm)
- ctis·2023-510391-31-00·Expired·The effect of different antibiotic protocols for dental implant surgery on peri-implant tissue health and on oral microbiome and resistome
skipped — LLM skipped (--skip-llm)
- ctis·2023-508522-95-00·Expired·EPIK-P3: A phase II study to evaluate the long-term safety and efficacy of alpelisib in patients with PIK3CA Related-Overgrowth Spectrum (PROS) who previously participated in Study CBYL719F12002 (EPIK-P1)
skipped — LLM skipped (--skip-llm)
- ctis·2023-508216-29-00·Cancelled·Prospective double-blind randomized comparative study of the use of methoxyflurane vs placebo in the management of pain in oral and dental emergencies in adults: METODO (METhoxyflurane in ODOntology)
skipped — LLM skipped (--skip-llm)
- ctis·2023-503507-29-00·Authorised, recruiting·Prospective, multicenter, randomized, double-blind, parallel group, placebo-controlled, efficacy and safety phase 3 study of an intravenous human plasma-derived C1 esterase inhibitor (C1-INH) concentrate in participants with congenital C1-INH deficiency for the treatment and pre-procedure prevention of acute hereditary angioedema attacks
skipped — LLM skipped (--skip-llm)
- ctis·2023-503719-13-00·Expired·A randomized, double-blind, multi-center, placebo-controlled, parallel-group phase 3 study to compare the efficacy, acceptability, and safety of Tranexamic Acid Oral Solution 5% with placebo in the prevention of clinically relevant bleeding events in subjects treated with direct oral anticoagulants or vitamin K antagonists and undergoing a single or multiple tooth extraction
skipped — LLM skipped (--skip-llm)
- ctis·2022-500059-22-01·Cancelled·High-dosage fluoride toothpaste for root caries control (in situ): a randomized, controlled clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2022-501329-18-00·Cancelled·A study in healthy volunteers to improve methods for detection of GHB in drug rape victims
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Gorlin-Chaudhry-Moss syndrome — check Associations / patient organisations on that page.
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.
"Gorlin-Chaudhry-Moss syndrome" OR "Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome" OR "Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome" OR "Cranofacial dysostosis-hypertrichosis-hypoplasia of the labia majora syndrome" OR "Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome" OR "GCM syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Gorlin-Chaudhry-Moss syndrome" OR "Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome" OR "Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome" OR "Cranofacial dysostosis-hypertrichosis-hypoplasia of the labia majora syndrome" OR "Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome" OR "GCM syndrome"
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 multi-word and distinctive
- No synonyms dropped by stoplist
- "Gorlin-Chaudhry-Moss syndrome" also appears on ORPHA:2963
- "Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome" also appears on ORPHA:2963
- "Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome" also appears on ORPHA:2963
- "Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome" also appears on ORPHA:2963
- "GCM syndrome" also appears on ORPHA:2963
Ingested 2026-07-26T19:05:57.963Z