Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

polyhydramnios, megalencephaly, and symptomatic epilepsy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polyhydramnios, megalencephaly, and symptomatic epilepsy

MONDO:0012611

Also known as:PMSE syndromePMSEpolyhydramnios, megalencephaly, and symptomatic epilepsy syndrome

Overview

A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3.

GeneticsAutosomal recessive · STRADA (chr 17)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Large forehead, Low muscle tone (hypotonia), Hyperplasia of midface, and Hypertelorism and others; and very common findings: Macrocephaly and Premature birth. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Inability to walk, Seizure, Enlarged brain ventricles (ventriculomegaly)

Genetic Landscape

STRADA function has not been fully characterized.

Polyhydramnios, megalencephaly, and symptomatic epilepsy is associated with mutations in the STRADA gene on chromosome 17.

Diagnosis

Genetic testing for STRADA is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 2 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for polyhydramnios, megalencephaly, and symptomatic epilepsy.

4 publications have been identified in PubMed for polyhydramnios, megalencephaly, and symptomatic epilepsy. Research spans Basic Science / Preclinical (75%) and Gene Therapy / Novel Therapeutics (25%).

Recent Publications

Pan T (2026). [PMID: 41791387](https://pubmed.ncbi.nlm.nih.gov/41791387/). *Stem cell reports*. [Basic Science / Preclinical]
Parikh RK (2026). [PMID: 41959176](https://pubmed.ncbi.nlm.nih.gov/41959176/). *bioRxiv*. [Basic Science / Preclinical]
Boff MO (2025). [PMID: 40358185](https://pubmed.ncbi.nlm.nih.gov/40358185/). *Cells*. [Gene Therapy / Novel Therapeutics]
Pan T (2025). [PMID: 40462897](https://pubmed.ncbi.nlm.nih.gov/40462897/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Oct 4, 2026, 6:17 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611087

Orphanet

European rare disease database

Orphanet:500533

GARD

Genetic and Rare Diseases Info Center

GARD:12913

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

polyhydramnios, megalencephaly, and symptomatic epilepsy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features