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ORPHA:500533

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

low confidenceDisorder

Also known as: PMSE syndrome

Publications

10,297

Trials

0

Interventional, condition-specific

Researchers

412

Distinct authors in sample

Gene link

STRADA

Definitive

Readiness

4/6

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.”

4/6 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

    10,297 matched papers (6,199 in last 10 years) Source

  3. Phenotype characterisedPresent

    65 HPO annotations (e.g. Nephrocalcinosis; Hypotonia; Generalized hypotonia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 1435 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)

65

Associated phenotypes · MONDO:0012611

  • Nephrocalcinosis
  • Hypotonia
  • Generalized hypotonia
  • Hyperplasia of midface
  • Hypertelorism

Showing 5 of 65 — 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?

10,297

10,297 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

10,297 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).

6,199 in the last 10 years · low confidence

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). 1,435 trials are registered for epilepsy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

low 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.

1,435 interventional trials matched epilepsy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: epilepsy

1,435

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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

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).

Uncertain / not reviewed (1)

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 Polyhydramnios-megalencephaly-symptomatic epilepsy 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.

("Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome" OR "PMSE syndrome" OR "polyhydramnios, megalencephaly, and symptomatic epilepsy") OR (MESH:"Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy") OR ("STRADA" OR "STRADA syndrome" OR "STRADA-related")

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"

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; 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
  • Publication count (10297) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T17:42:59.620Z