Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Synonyms: PMSE syndrome
A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios severe intractable epilepsy presenting in infancy severe hypotonia decreased muscle mass global developmental delay 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.