Management

It is important to learn and recognize the clinical features of DDOD syndrome in order to diagnose and intervene it early.
Since the pathogenic mutation, p.Arg506X in ATP6V1B2 occurs de novo in most of the DDOD syndrome cases, inclusion of  the mutation into the non-invasive prenatal test (NIPT) panel could help to diagnose patients during the foetus period. For the already diagnosed DDOD syndrome cases, there is a 50% risk of passing over the mutation to their offspring. Preimplantation of genetic diagnosis and prenatal diagnosis could be implemented to avoid the risk.