ORPHA:1393
Cerebrocostomandibular syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
64
46.2th percentile
Trials
0
Interventional, condition-specific
Researchers
535
Distinct authors in sample
Gene link
SNRPB
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.
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:0007301
- MeSH:C562538
- OMIM:117650
- UMLS:C0265342
Additional Mondo synonyms (1)
cerebrocostomandibular syndrome
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SNRPB
- LiteraturePresent
64 matched papers (34 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?
Yes — we know a specific gene responsible (SNRPB).
GenCC classification: Definitive.
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?
64
64 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.
64 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).
34 in the last 10 years · medium confidence · 46.2th percentile (publications denominator)
Phrase hits: 64 · MeSH hits: 0
Who's working on it?
535
Distinct author names in 64 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.
- 01Amiel J4 papers · 2024
Laboratory of Embryology and Genetics of Human Malformations, Institute National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris 75015, France.
Papers in Europe PMC - 02Gordon CT3 papers · 2023
Laboratory of Embryology and Genetics of Human Malformations, Institute National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris 75015, France.
Papers in Europe PMC - 03Thompson ML3 papers · 2024
HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
Papers in Europe PMC - 04Alam SS2 papers · 2022
Research Institute of the McGill University Health Centre at Glen Site, Montreal, QC H4A 3J1, Canada.
Papers in Europe PMC - 05Bareke E2 papers · 2022
Department of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.
Papers in Europe PMC - 06Bebin EM2 papers · 2023
Department of Neurology, University of Alabama at Birmingham, Birmingham, AL.
Papers in Europe PMC - 07Bonini KE2 papers · 2023
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
Papers in Europe PMC - 08Bonnstetter ZT2 papers · 2023
HudsonAlpha Institute for Biotechnology, Huntsville, AL.
Papers in Europe PMC - 09Boucher A2 papers · 2022
Research Institute of the McGill University Health Centre at Glen Site, Montreal, QC H4A 3J1, Canada.
Papers in Europe PMC - 10Bowling KM2 papers · 2023
Washington University School of Medicine, St. Louis, MO.
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.
medium 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.
"Cerebrocostomandibular syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cerebrocostomandibular syndrome" OR "SNRPB"
Recall-expansion terms: SNRPB
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T17:13:51.356Z