Medical condition/treatment
Kabuki syndrome
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Hole body
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Kabuki syndrome is a genetic disorder that causes distinctive facial features, developmental delays, intellectual impairments and other health problems. It is caused by mutations in various genes.
Causes/Description:
Kabuki syndrome is caused by mutations in genes involved in the regulation of chromatin-associated proteins, such as KMT2D and KDM6A. The exact cause of these mutations is unknown, but genetics plays a role. Other factors may include environmental factors and neural wiring disorders.
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Physiotherapie, Ergotherapie, Logopädie, Frühintervention, Entwicklungsförderung, Verhaltensmanagement, Psychosoziale Unterstützung, Genetische Beratung, Familienunterstützung, Psychologische Beratung
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Kabuki syndrome is caused by mutations in the KMT2D and KDM6A genes. These genes play a role in regulating gene expression during development and mutations lead to the characteristic features of the disorder.
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- Early intervention and early support<br>- Specialized therapies and developmental support<br>- Educational plans with individual support<br>- Psychosocial support for those affected and families<br>- Medical management and care
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Kabuki syndrome was first described in 1981. It is caused by mutations in KMT2D or KDM6A genes and is characterized by distinctive facial features, developmental delays, intellectual disabilities and health problems. Treatment focuses on managing symptoms and supporting development.