Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

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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 December 2023

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