ORPHA:599082
CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
Also known as: Snijders Blok-Campeau syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Publications
2,250
Trials
—
Interventional, condition-specific
Researchers
853
Distinct authors in sample
Gene link
CHD3
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, multiple anomalies/ syndrome characterized by moderate to severe , , macrocephaly, speech delay, and . facial features include a high, broad, and/or prominent forehead, laterally sparse eyebrows, widely spaced and deeply-set eyes, narrow palpebral fissures, low-set ears, full/prominent cheeks, midface hypoplasia, thin upper lip, and a pointed chin. Additional variable manifestations include joint laxity, abnormality of vision (including hypermetropia, strabismus, and cerebral visual impairment), genital abnormalities in males, and inguinal, umbilical, or hiatal hernia.
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:0032600
- OMIM:618205
- UMLS:C4748701
Additional Mondo synonyms (1)
intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies
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.”
3/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Definitive — CHD3
- LiteraturePresent
2,250 matched papers (1,509 in last 10 years) Source
- Phenotype characterisedPresent
44 HPO annotations (e.g. Epicanthus; Astigmatism; Stuttering) Source
- 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 checked
Trial fetch failed or incomplete
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 (CHD3).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
44
Associated phenotypes · MONDO:0032600
- Epicanthus
- Astigmatism
- Stuttering
- Myoclonic seizure
- Thin corpus callosum
Showing 5 of 44 — open Monarch for the full list.
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?
2,250
2,250 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,250 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).
1,509 in the last 10 years · low confidence
Phrase hits: 87 · MeSH hits: 0
Who's working on it?
853
Distinct author names in 87 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Campeau PM8 papers · 2025
CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.
Papers in Europe PMC - 02Barakat TS5 papers · 2026
Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Papers in Europe PMC - 03den Hoed J5 papers · 2025
Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
Papers in Europe PMC - 04Fisher SE5 papers · 2025
Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands.
Papers in Europe PMC - 05Li D4 papers · 2024
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. lid2@email.chop.edu songy2@email.chop.edu.
Papers in Europe PMC - 06Bebin EM3 papers · 2022
University of Alabama at Birmingham, Birmingham, AL, USA.
Papers in Europe PMC - 07Brunelle P3 papers · 2026
Univ. Lille, EA 7364-RADEME-Maladies RAres du DEveloppement embryonnaire et du MEtabolisme, F-59000, Lille, France.
Papers in Europe PMC - 08Brunet T3 papers · 2022
Institute of Human Genetics, Technical University Munich, Munich, Germany.
Papers in Europe PMC - 09Campeau P3 papers · 2025
Department of Pediatrics, Medical Genetics Division, University of Montreal, Montreal, Canada.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 11 September 2026 · last trial check 28 July 2026
low confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
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).
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 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism 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.
("CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome" OR "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of the vision-facial dysmorphism syndrome" OR "Snijders Blok-Campeau syndrome" OR "intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies") OR ("CHD3" OR "CHD3 syndrome" OR "CHD3-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22CHD3-related%20developmental%20delay-speech%20delay-intellectual%20disability-abnormalities%20of%20vision-facial%20dysmorphism%20syndrome%22&format=json&pageSize=100&countTotal=true
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (2250) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T18:56:39.372Z