Autoszomális domináns
Snijders Blok-Campeau syndrome is caused by a change in one copy of CHD3, a chromatin remodelling protein that controls how DNA is packaged and which genes are switched on. Many cases arise de novo, but inherited variants, most often from the mother, also occur.
Tünetek és jelek
Developmental delay, intellectual disability of varying degree and marked speech and language difficulties are typical. A large head, prominent forehead, widely spaced eyes and low muscle tone are common, and autism or behavioural differences occur in some. Vision problems are common, and about half of people have brain differences, such as enlarged fluid spaces.
Mit változtat a diagnózis
Developmental, speech and educational support, with eye and behavioural assessment and brain imaging when indicated. Many cases arise de novo, but a parent can carry the change, often without being clinically affected, so genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
Más néven
CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome; intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies; SNIBCPS
