Sue Routledge pitt hopkins syndrome uk crdn summit 2017

2. wide mouth
distinctive eye brows
cupid bow top lip
full bottom lip
Christopher, 2007 Christopher, 2017
Severe learning disability, motor delay, breathing anomalies, characteristic facial features

3. Wish List
1. All geneticists to be aware of Pitt-Hopkins syndrome and be able to
recognise and diagnose it.
2. Research by means of natural history studies of the autonomic nervous
system e.g. breathing anomalies, chronic constipation to be carried out.
3. A specialist ‘one stop shop’ clinic for Pitt-Hopkins syndrome to be set up in
the UK. Continuing the development of the waihonapedia and management
guidelines.