Pitt Hopkins España

The Asociación Española Síndrome Pitt-Hopkins is a Spanish association representing families affected by Pitt-Hopkins syndrome, an ultra-rare genetic condition caused by changes in the TCF4 gene on chromosome 18. The association describes the condition, shares information for families, and works to make people with the syndrome more visible in society. Its mission includes supporting research in the hope of advancing therapies, defending the rights of affected people, and promoting a fairer, more accessible world for those living with functional diversity.

The organisation notes that around 70 families with Pitt-Hopkins syndrome have been identified in Spain, while the condition’s prevalence is uncertain because reported cases worldwide are very few. Its website provides information about living with Pitt-Hopkins, the association and families, alongside contact details and links to its social media channels. It also offers visitors information on privacy, cookies and legal notices.

Through advocacy, awareness and support for research, the association seeks to improve quality of life for people with Pitt-Hopkins syndrome and their families