ORPHA:821
Sotos syndrome
Also known as: Cerebral gigantism
Publications
1,929
93.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,175
Distinct authors in sample
Gene link
NSD1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019349
- MeSH:D058495
- OMIM:117550
- UMLS:C0175695
- NCIT:C75019
Additional Mondo synonyms (8)
NSD1 Sotos syndrome · Sotos syndrome 1 · Sotos syndrome caused by mutation in NSD1 · Sotos syndrome type 1 · Sotos' syndrome · cerebral gigantism · cerebral gigantism syndrome · chromosome 5q35 deletion 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 — NSD1
- LiteraturePresent
1,929 matched papers (1,018 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 (NSD1).
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?
1,929
1,929 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=5449) is 41.
1,929 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).
1,018 in the last 10 years · medium confidence · 93.1th percentile (publications denominator)
Phrase hits: 1,929 · MeSH hits: 0
Who's working on it?
1,175
Distinct author names in 200 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.
- 01Conteduca G7 papers · 2024
Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Papers in Europe PMC - 02Coviello D7 papers · 2024
Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Papers in Europe PMC - 03Malacarne M5 papers · 2024
Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Papers in Europe PMC - 04Testa B5 papers · 2024
Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Papers in Europe PMC - 05Arado A4 papers · 2024
Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Papers in Europe PMC - 06Baldo C4 papers · 2024
Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Papers in Europe PMC - 07Delagrammatikas CG4 papers · 2026
Malan Syndrome Foundation, 15 Wendy Drive, Old Bridge, NJ 08857, USA.
Papers in Europe PMC - 08Galasso C4 papers · 2024
Child Neurology and Psychiatry Unit, Department of Neurosciences, Policlinico Tor Vergata Foundation Hospital, Rome, Italy.
Papers in Europe PMC - 09Mazzone L4 papers · 2024
Child Neurology and Psychiatry Unit, Department of Neurosciences, Policlinico Tor Vergata Foundation Hospital, Rome, Italy.
Papers in Europe PMC - 10Milani D4 papers · 2026
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, 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. 2 observational studies 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.
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.
Observational and natural-history studies
2 observational studies match 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 name phrase
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.
"Sotos syndrome" OR "Cerebral gigantism" OR "NSD1 Sotos syndrome" OR "Sotos syndrome 1" OR "Sotos syndrome caused by mutation in NSD1" OR "Sotos syndrome type 1" OR "Sotos' syndrome" OR "cerebral gigantism syndrome" OR "chromosome 5q35 deletion syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sotos syndrome" OR "Cerebral gigantism" OR "NSD1 Sotos syndrome" OR "Sotos syndrome 1" OR "Sotos syndrome caused by mutation in NSD1" OR "Sotos syndrome type 1" OR "Sotos' syndrome" OR "cerebral gigantism syndrome" OR "chromosome 5q35 deletion syndrome" OR "NSD1"
Recall-expansion terms: NSD1
Study-type breakdown: 0 interventional · 2 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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:32:44.161Z