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ORPHA:500533

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

high confidenceDisorder

Also known as: PMSE syndrome

Publications

76

51.6th percentile

Trials

0

Interventional, condition-specific

Researchers

412

Distinct authors in sample

Gene link

STRADA

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable presenting in infancy, severe , decreased muscle mass, global , craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

polyhydramnios, megalencephaly, and symptomatic epilepsy

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — STRADA

  2. LiteraturePresent

    76 matched papers (45 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 1428 for broader category epilepsy

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 (STRADA).

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?

76

76 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.

76 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).

45 in the last 10 years · high confidence · 51.6th percentile (publications denominator)

Phrase hits: 76 · MeSH hits: 4

Open Europe PMC search

Who's working on it?

412

Distinct author names in 76 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.

  1. 01
    Crino PB11 papers · 2026

    Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, United States.

    Papers in Europe PMC
  2. 02
    Wong M7 papers · 2018

    Department of Neurology and the Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO 63110, USA. wong_m@wustl.edu

    Papers in Europe PMC
  3. 03
    Baybis M4 papers · 2020

    Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, United States.

    Papers in Europe PMC
  4. 04
    Dang LT4 papers · 2026

    Department of Neurology, Michigan Medicine, Ann Arbor, MI, United States.

    Papers in Europe PMC
  5. 05
    Parker WE4 papers · 2026

    Department of Neurosurgery, Weill-Cornell Medical Center, New York, NY, United States.

    Papers in Europe PMC
  6. 06
    Bateman JM3 papers · 2025

    Wolfson Centre for Age-Related Diseases, King's College London, Guy's Campus, London SE1 1UL UK. Electronic address: joseph_matthew.bateman@kcl.ac.uk.

    Papers in Europe PMC
  7. 07
    Heuer GG3 papers · 2010
    Papers in Europe PMC
  8. 08
    Iffland PH3 papers · 2026

    Post-doctoral research fellow, Shriners Hospitals Pediatric Research Center, Lewis Katz School of Medicine, Temple University, Philadelphia, PA.

    Papers in Europe PMC
  9. 09
    Orlova KA3 papers · 2013

    Department of Neurology, Penn Epilepsy Center, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104, USA.

    Papers in Europe PMC
  10. 10
    Vaid S3 papers · 2026

    Department of Neurology, Michigan Medicine, Ann Arbor, MI, United States.

    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). 1,428 trials are registered for epilepsy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

1,428 interventional trials matched epilepsy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: epilepsy

1,428

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2026-07-26

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.

"Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome" OR "PMSE syndrome" OR "polyhydramnios, megalencephaly, and symptomatic epilepsy"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy

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

"Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome" OR "PMSE syndrome" OR "polyhydramnios, megalencephaly, and symptomatic epilepsy" OR "STRADA"

Recall-expansion terms: STRADA

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

Parent-category trials query:

"epilepsy"

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

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 2026-07-27T17:42:59.620Z