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ORPHA:819

Smith-Magenis syndrome

medium confidenceDisorder

Also known as: 17p11.2 microdeletion syndrome

Publications

3,248

90.3th percentile

Trials

7

Interventional, condition-specific

Researchers

1,127

Distinct authors in sample

Gene link

RAI1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal).

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

SMITH-Magenis syndrome · SMS · Smith Magenis Syndrome · Smith-Magenis syndrome, Isolated cases · chromosome 17P11.2 deletion syndrome · chromosome 17p11.2 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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — RAI1

  2. LiteraturePresent

    3,248 matched papers (1,834 in last 10 years) Source

  3. Phenotype characterisedPresent

    176 HPO annotations (e.g. Brachycephaly; Broad forehead; Hypotonia) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPartial

    1 FDA · 3 EMA designations (none yet with FDA orphan-indication approval) — e.g. acebutolol hydrochloride Source

  6. Interventional trialPresent

    7 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (RAI1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

176

Associated phenotypes · MONDO:0008434

  • Brachycephaly
  • Broad forehead
  • Hypotonia
  • Large face
  • Velopharyngeal insufficiency

Showing 5 of 176 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

Model associations linked to this Mondo ID

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)

4

Designations · no FDA orphan-indication approval yet

  • EMA acebutolol hydrochlorideTreatment of Smith-Magenis syndrome · 14/10/2016 · PositiveEMA designation
  • EMA melatoninTreatment of Smith-Magenis syndrome · 14/10/2016 · PositiveEMA designation
  • EMA tasimelteonTreatment of Smith-Magenis syndrome · 13/10/2023 · PositiveEMA designation
  • FDA tasimelteon (Hetlioz)Smith-Magenis syndrome Sleep disorder · 2010-04-30

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0008434

CTD chemicals (MyDisease.info)

1 associated chemical · 1 pathway. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Risperidone · therapeutic

Pathways: Circadian Clock

MyDisease.info · MONDO:0008434

Literature

Is anyone studying this?

3,248

3,248 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.

3,248 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).

1,834 in the last 10 years · medium confidence · 90.3th percentile (publications denominator)

Phrase hits: 2,020 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,127

Distinct author names in 200 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.

  1. 01
    Elsea SH9 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

    Papers in Europe PMC
  2. 02
    Onesimo R9 papers · 2025

    Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.

    Papers in Europe PMC
  3. 03
    Zampino G9 papers · 2025

    Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.

    Papers in Europe PMC
  4. 04
    Oliver C8 papers · 2024

    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham.

    Papers in Europe PMC
  5. 05
    Richards C8 papers · 2024

    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham.

    Papers in Europe PMC
  6. 06
    Huang WH7 papers · 2026

    Department of Neurology and Neurosurgery, Centre for Research in Neuroscience, McGill University, QC, H3G 1A3, Canada.

    Papers in Europe PMC
  7. 07
    Lee YJ7 papers · 2026

    Department of Neurology and Neurosurgery, Centre for Research in Neuroscience, McGill University, QC, H3G 1A3, Canada.

    Papers in Europe PMC
  8. 08
    Agar G6 papers · 2024

    School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK. g.e.agar@bham.ac.uk.

    Papers in Europe PMC
  9. 09
    Haque M6 papers · 2026

    Department of Neurology and Neurosurgery, Centre for Research in Neuroscience, McGill University, QC, H3G 1A3, Canada.

    Papers in Europe PMC
  10. 10
    Smith ACM6 papers · 2026

    Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

medium confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

5 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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 Smith-Magenis syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Smith-Magenis syndrome" OR "17p11.2 microdeletion syndrome" OR "Smith Magenis Syndrome" OR "Smith-Magenis syndrome, Isolated cases" OR "chromosome 17P11.2 deletion syndrome") OR ("RAI1" OR "RAI1 syndrome" OR "RAI1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Smith-Magenis syndrome" OR "17p11.2 microdeletion syndrome" OR "Smith Magenis Syndrome" OR "Smith-Magenis syndrome, Isolated cases" OR "chromosome 17P11.2 deletion syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 7 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SMS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:31:58.286Z