ORPHA:2588
Myhre syndrome
Also known as: Facial dysmorphism-intellectual disability-short stature-deafness syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome · Myhre-LAPS syndrome · Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome
Publications
284
68.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,506
Distinct authors in sample
Gene link
SMAD4
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable . Cardiovascular and respiratory involvement are common.
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:0007688
- MeSH:C537620
- OMIM:139210
- UMLS:C0796081
- NCIT:C123815
Additional Mondo synonyms (1)
facial dysmorphism-intellectual disability-short stature-hearing loss 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.”
3/6 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 — SMAD4
- LiteraturePresent
284 matched papers (209 in last 10 years) Source
- Phenotype characterisedPresent
135 HPO annotations (e.g. Thin vermilion border; Hearing impairment; Intellectual disability) 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 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 (SMAD4).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
135
Associated phenotypes · MONDO:0007688
- Thin vermilion border
- Hearing impairment
- Intellectual disability
- Global developmental delay
- Abnormal pubic bone morphology
Showing 5 of 135 — 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?
284
284 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=3967) is 59.
284 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).
209 in the last 10 years · medium confidence · 68.7th percentile (publications denominator)
Phrase hits: 284 · MeSH hits: 0
Who's working on it?
1,506
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.
- 01Lin AE22 papers · 2026
Medical Genetics, MassGeneral Hospital for Children, Boston, Massachusetts, USA.
Papers in Europe PMC - 02Cormier-Daire V17 papers · 2026
Department of Genetics, Reference Center for Skeletal Dysplasia, Paris Descartes University-Sorbonne Paris Cité, INSERM U MR1163, IMAGINE Institute, Hôpital Necker-Enfants Malades, Paris, France.
Papers in Europe PMC - 03Lindsay ME13 papers · 2025
Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
Papers in Europe PMC - 04Brunetti-Pierri N12 papers · 2026
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
Papers in Europe PMC - 05Callewaert B8 papers · 2025
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Papers in Europe PMC - 06Scimone ER7 papers · 2025
Department of Pediatrics, Genetics Unit, Mass General Brigham for Children, Boston, Massachusetts, USA.
Papers in Europe PMC - 07Le Goff C6 papers · 2016
Département de Génétique, Unité INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.
Papers in Europe PMC - 08Starr LJ6 papers · 2024
Division of Clinical Genetics, University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska.
Papers in Europe PMC - 09Tartaglia M6 papers · 2024
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Papers in Europe PMC - 10Brand MR5 papers · 2026
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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 Myhre 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.
"Myhre syndrome" OR "Facial dysmorphism-intellectual disability-short stature-deafness syndrome" OR "Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome" OR "Myhre-LAPS syndrome" OR "Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Myhre syndrome" OR "Facial dysmorphism-intellectual disability-short stature-deafness syndrome" OR "Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome" OR "Myhre-LAPS syndrome" OR "Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome"
Study-type breakdown: 0 interventional · 0 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
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 2026-07-26T20:37:31.506Z