ORPHA:561
Marshall-Smith syndrome
Also known as: Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
200
67.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,766
Distinct authors in sample
Gene link
NFIX
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic multiple anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies, airway obstructions, , , moderate to severe and characteristic facial features with macrocephaly, prominent forehead, shallow orbits, proptosis and blue sclerae.
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:0011244
- MeSH:C536026
- OMIM:602535
- UMLS:C0265211
Additional Mondo synonyms (1)
accelerated skeletal maturation-facial dysmorphism-failure to thrive 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 — NFIX
- LiteraturePresent
200 matched papers (105 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 (NFIX).
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?
200
200 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.
200 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).
105 in the last 10 years · medium confidence · 67.2th percentile (publications denominator)
Phrase hits: 200 · MeSH hits: 0
Who's working on it?
1,766
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.
- 01Thakker RV15 papers · 2024
Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK.
Papers in Europe PMC - 02Hennekam RC12 papers · 2024
Department of Paediatrics and Translational Genetics, AMC, University of Amsterdam, The Netherlands. Electronic address: r.c.hennekam@amc.uva.nl.
Papers in Europe PMC - 03Priolo M10 papers · 2026
Operative Unit of Medical Genetics Bianchi-Melacrino-Morelli Great Metropolitan Hospital, 89133 Reggio Calabria, Italy.
Papers in Europe PMC - 04Gorvin CM9 papers · 2023
Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford, UK.
Papers in Europe PMC - 05Hannan FM8 papers · 2023
Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford, UK.
Papers in Europe PMC - 06Cormier-Daire V7 papers · 2023
Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
Papers in Europe PMC - 07Dabir T7 papers · 2019
Department of Molecular and Cellular Therapeutics, RCSI, Dublin
Papers in Europe PMC - 08Lynch S7 papers · 2019
Department of Molecular and Cellular Therapeutics, RCSI, Dublin
Papers in Europe PMC - 09Wells S7 papers · 2024
Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, UK.
Papers in Europe PMC - 10Cox RD6 papers · 2023
Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, UK.
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.
"Marshall-Smith syndrome" OR "Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Marshall-Smith syndrome" OR "Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome" OR "NFIX"
Recall-expansion terms: NFIX
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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (200) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T14:20:57.565Z