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Pitt-Hopkins Syndrome

In 1978, David Pitt and Ian Hopkins reported two unrelated individuals with an unusual, distinctive phenotype of intellectual disability with intermittent over breathing, accompanied by a wide mouth. Today, we recognize this as Pitt-Hopkins syndrome (PTHS) and have come to better understand the phenotypic variability associated with this disorder and how it overlaps several other related disorders. Most cases are caused by loss of function mutations or deletions of the TCF4 gene. Ongoing research is underway to better understand the underpinnings of this disorder and to generate specific treatment options.

The overall prevalence of PTHS is unknown. Several years ago, it was estimated that approximately 200 to 300 individuals in the world had been diagnosed with PTHS, though this is clearly a significant underestimation of ...

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