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Medical condition/treatment

Kleefstra syndrome

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Kleefstra syndrome is a genetic disorder that causes developmental delays, intellectual impairments, epilepsy and distinctive facial features. It is caused by mutations in the EHMT1 gene.

Causes/Description:

Kleefstra syndrome is caused by mutations in the EHMT1 gene. The exact cause of these mutations is unknown, but genetics plays a role. Other factors may include environmental factors and neural wiring disorders.

Kleefstra syndrome

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Physiotherapie, Ergotherapie, Logopädie, Frühintervention, Entwicklungsförderung, Verhaltensmanagement, Psychosoziale Unterstützung, Genetische Beratung, Krankheitsmanagement, Ernährungsberatung

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Kleefstra syndrome is caused by mutations in the EHMT1 gene. This gene plays a role in regulating gene expression during development, and mutations lead to the characteristic features of the disorder.

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- Early diagnosis and intervention<br>- Early intervention and developmental support<br>- Specialized therapies and educational plans<br>- Medical management and care<br>- Support through genetic counseling and family support

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Kleefstra syndrome was first described in 2006. It is caused by mutations in the EHMT1 gene and is characterized by developmental delays, intellectual disabilities, epilepsy and distinctive facial features. Treatment focuses on managing symptoms and supporting development.

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