At the initial clinic appointment, we recommend that the history and examination should aim to identify known associations of Weaver syndrome as outlined above.

Subsequent to this initial assessment, children with Weaver syndrome should be reviewed by a paediatrician on an annual basis for the first five years because of the possible risk of developing neuroblastoma. Whilst we do not recommend active screening for neuroblastoma (as this has not been proven to be of any benefit), these regular reviews will ensure that the families have a point of contact if symptoms develop that require early investigation.

After five years the risk of developing neuroblastoma, diminishes significantly. At this point and if there are no ongoing complicated medical concerns, review should occur in response to need in childhood and as an adult to discuss offspring risk.