Amish, Mennonite, and Hutterite
Genetic Disorder Database

Polyhydramnios, megalencephaly and symptomatic epilepsy

Disorder
OMIM #: #611087  (Click to access OMIM database)
Disorder: Polyhydramnios, megalencephaly and symptomatic epilepsy 
Also known as: PMSE syndrome
Pretzel syndrome 
Clinical
Phenotype: polyhydramnios, macrocephaly, hypotonicity, long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips, prominent central forehead in childhood, seizures, developmental delay/mental retardation, congenital heart disease 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Old Order Mennonite  
Gene: STRADA (LYK5)
Base Change: 7304bp deletion: exons 9-13
Amino Acid Change:
Last updated: 2018-04-19 

References
Parker WE, Orlova KA, Parker WH, Birnbaum JF, Krymskaya VP, Goncharov DA, Baybis M, Helfferich J, Okochi K, Strauss KA, Crino PB. (2013) Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder. Sci Transl Med April 24; 5(182): 182ra53. doi:10.1126/scitranslme.
PubMed ID: 23616120 
Puffenberger EG, Strauss KA, Ramsey KE, Craig DW, Stephan DA, Robinson DL, Hendrickson CL, Gottlieb S, Ramsay DA, Siu VM, Heuer GG, Crino PB, and Morton DH. (2007) Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. Brain 130(Pt 7): 1929-1941.
PubMed ID: 17522105 

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