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Medical condition/treatment

Smith-Magenis syndrome

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Smith-Magenis syndrome is a genetic disorder that causes developmental delays, behavioral problems, distinctive facial features, and sleep disorders. It is caused by a deletion on chromosome 17.

Causes/Description:

Smith-Magenis syndrome is a genetic disorder caused by a deletion on chromosome 17. The exact cause of this deletion is unknown, but genetics plays a role. Other factors may include environmental factors and neural wiring disorders.

Smith-Magenis syndrome

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Physiotherapie, Ergotherapie, Logopädie, Verhaltenstherapie, Frühintervention, Entwicklungsförderung, Familientherapie, Sozialkompetenztraining

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Smith-Magenis syndrome is caused by a deletion or mutation in the RAI1 gene on chromosome 17. This genetic change leads to a variety of symptoms, including developmental delay, behavioral problems and distinctive facial features.

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- Behavioral and communication therapy - Physiotherapy and occupational therapy to promote independence - Structured daily programs and activities - Parent and family advice and support

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Smith-Magenis syndrome was first described in 1986 by Ann Smith and Ellen Magenis. It is a rare genetic disorder caused by a deletion or mutation on chromosome 17. The main features include sleep disorders, behavioral problems, intellectual disabilities and distinctive facial features. Advances in genetics have led to a better understanding of the disease and its treatment.

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