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 STRADA deficiency |
| Clinical | |
| Phenotype: | polyhydramnios, feeding difficulties, macrocephaly, hypotonia, long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips, frontal bossing in childhood, seizures, developmental delay, motor delay, ventriculomegaly, congenital heart defect |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | STRADA (LYK5) |
| Base Change: | 7304bp deletion: exons 9-13 |
| Amino Acid Change: | |
| Last updated: | 2022-11-15 |
| References |
|---|
| Dang LT, Glanowska KM, Iffland PH, Barnes AE, Baybis M, Liu Y, Patino G, Vaid S, Streicher AM, Parker WE, Kim S, Moon UY, Henry FE, Murphy GG, Sutton M, Parent JM, Crino PB. (2020) Multimodal Analysis of STRADA Function in Brain Development. Front Cell Neurosci May 8;14:122. PubMed ID: 32457579 |
| Hutson J, Siu VM, Rupar CA. (2022) Clinical Conundrum: Polyhydramnios as a Marker for a Fetal Genetic Syndrome in the Canadian Old Order Mennonite Population. J Obstet Gynaecol Can Jul;44(7):798-802. PubMed ID: 35131504 |
| 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 Apr 24;5(182):182ra53. 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, 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 |
Back