Sue Routledge pitt hopkins syndrome uk crdn summit 2017

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This document discusses Pitt-Hopkins syndrome, a rare genetic condition characterized by distinctive facial features like wide mouth and prominent eyebrows. It causes severe learning disabilities, motor delays, and breathing issues. The wish list calls for increased geneticist awareness of Pitt-Hopkins syndrome to aid diagnosis, more research on autonomic nervous system effects like breathing anomalies and constipation, and establishing a specialized UK clinic for comprehensive Pitt-Hopkins syndrome care and management guidance.

Health & Medicine

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

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.

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