Clinical

Syndromes: Pitt-Hopkins syndrome

A rare genetic disease that affects both sexes where delayed development of communication skills and impairments in social interactions are common
DNA helix

A rare genetic disease that affects both sexes where delayed development of communication skills and impairments in social interactions are common

Pitt-Hopkins syndrome (PTHS) is a rare genetic disease first described by Australian physicians David Pitt and Ian Hopkins in 1978.

To date, only 500 confirmed clinical cases of PTHS have been described worldwide ( Sparber et al 2020 ), although the true global prevalence is unknown.

Estimates based on unpublished case data in the UK and the Netherlands range from one case per 225,000 people to one per 300,000. Severe intellectual disabilities are indicated in 98% to 100% of confirmed cases (

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