Background: Angelman syndrome is a genetic syndrome with a prevalence of 1 in 20,000. The combination of behaviour and phenotype makes this syndrome one of the easiest genetic syndromes to recognise.
Case description: Here we describe the case of Femke, a 3-year-old girl with Angelman syndrome. The phenotype is described from a medical perspective as well from the perspective of the parents.
Conclusion: Any physician might encounter a child or adult with a rare syndrome. It is difficult to determine what these kinds of syndrome entail based on tables or numbers alone. Descriptions of individual cases are therefore of utmost importance. Furthermore, it is important to recognise that, despite their possible considerable mental disabilities, people with genetic syndromes are just like any other human and should not be seen as just someone with a syndrome.