Sotos syndrome
Autoszomális domináns
An overgrowth syndrome caused by NSD1 variants or deletions, with a large head, tall stature in childhood, characteristic facial features and learning difficulties.
Mit változtat a diagnózis
Knowing allows monitoring for associated problems, including a modestly increased risk of some childhood tumours.
Vizsgált gének
Más néven
cerebral gigantism; cerebral gigantism syndrome; chromosome 5q35 deletion syndrome; distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development; NSD1 Sotos syndrome; Sotos syndrome 1; Sotos syndrome caused by mutation in NSD1; Sotos syndrome type 1; SOTOS1
