ORPHA:642675
CHD8 overgrowth syndrome
Also known as: CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome · Chromodomain helicase DNA binding protein 8 overgrowth syndrome
Publications
28
40th percentile
Trials
0
Interventional, condition-specific
Researchers
566
Distinct authors in sample
Gene link
CHD8
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by mild to moderate , autism spectrum , macrocephaly, tall stature, gastrointestinal problems (including recurrent constipation), distinctive facial features (including wide-set eyes with down-slanted palpebral fissure, broad nose with full nasal tip, pointed chin and broad forehead with prominent supraorbital ridge) and sleep problems. Other clinical manifestations include anxiety problems, attention problems, impaired social interactions and .
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:0014017
- OMIM:615032
- UMLS:C3554373
Additional Mondo synonyms (2)
autism, susceptibility to, 18 · autism, susceptibility to, type 18
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
Strong — CHD8
- LiteraturePresent
28 matched papers (24 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 (CHD8).
GenCC classification: Strong.
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?
28
28 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.
28 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).
24 in the last 10 years · high confidence · 40th percentile (publications denominator)
Phrase hits: 28 · MeSH hits: 0
Who's working on it?
566
Distinct author names in 28 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.
- 01Sadikovic B14 papers · 2025
Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address: Bekim.Sadikovic@lhsc.on.ca.
Papers in Europe PMC - 02Kerkhof J10 papers · 2025
Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Papers in Europe PMC - 03Levy MA9 papers · 2025
Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada.
Papers in Europe PMC - 04McConkey H7 papers · 2025
Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 05
- 06Alders M6 papers · 2025
Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
Papers in Europe PMC - 07
- 08Aref-Eshghi E5 papers · 2021
Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Papers in Europe PMC - 09Haghshenas S5 papers · 2024
Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
Papers in Europe PMC - 10Keren B5 papers · 2025
Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via recall expansion
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.
"CHD8 overgrowth syndrome" OR "CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome" OR "Chromodomain helicase DNA binding protein 8 overgrowth syndrome" OR "autism, susceptibility to, 18" OR "autism, susceptibility to, type 18"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CHD8 overgrowth syndrome" OR "CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome" OR "Chromodomain helicase DNA binding protein 8 overgrowth syndrome" OR "autism, susceptibility to, 18" OR "autism, susceptibility to, type 18" OR "CHD8"
Recall-expansion terms: CHD8
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T19:36:49.814Z