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Medical condition/treatment

Pitt-Hopkins syndrome

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Pitt-Hopkins syndrome is a genetic disorder that causes developmental delays, severe intellectual impairments, breathing problems and distinctive facial features. It is caused by mutations in the TCF4 gene.

Causes/Description:

Pitt-Hopkins syndrome is caused by mutations in the TCF4 gene, which is important for brain development. The exact cause of these mutations is unknown, but genetics plays a role. Other factors may include environmental factors and neural wiring disorders.

Pitt-Hopkins syndrome

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Frühintervention, Entwicklungsförderung, Logopädie, Psychosoziale Unterstützung, Verhaltensmanagement, Elternschulung, Medikamentöse Therapie, Genetische Beratung, Schlafstörungsbehandlung, Ernährungsberatung

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Most cases of Pitt-Hopkins syndrome are caused by mutations in the TCF4 gene. These gene mutations lead to insufficient production of the TCF4 protein, leading to the characteristic features of the disorder.

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- Early intervention and early support<br>- Speech and communication therapy<br>- Physiotherapy to promote mobility<br>- Behavior management and self-control<br>- Support in educational institutions and areas of life

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Pitt-Hopkins syndrome was first described in 1978. It is caused by mutations in the TCF4 gene and is characterized by distinctive facial features, developmental delays, breathing problems and seizure disorders. Treatment focuses on managing symptoms and supporting development.