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DESSH is short for
DeSanto-Shinawi Syndrome.
DeSanto-Shinawi Syndrome is a rare neurodevelopmental genetic syndrome caused by a mutation or deletion in the WAC gene. DESSH is characterized by global development delay, dysmorphic facial features, epilepsy, and ocular, gastrointestinal, and behavioral abnormalities. WAC is identified as an autism gene.
"He is our little X-man. He will not be like the others, but we understand thanks to him that the difference is a strength."
Marco's Family - Anglet, France
DESSH is an autosomal dominant disorder and can be passed down.
In most cases it occurs spontaneously, or
'de novo'.
Common characteristics are delayed motor skills and speech, and hypotonia.
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