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Medical condition/treatment

Bardet-Biedl syndrome

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Hole body

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Bardet-Biedl syndrome is a genetic disorder that causes a variety of symptoms, including obesity, eye problems, polydactyly, mental retardation, and abnormalities in various organ systems. It is caused by mutations in various genes.

Causes/Description:

Bardet-Biedl syndrome is a genetic disorder caused by mutations in various genes, including BBS1, BBS2 and BBS10. The exact cause of these mutations is unknown, but genetics plays a role. Other factors may include environmental factors and neural wiring disorders.

Bardet-Biedl syndrome

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Physiotherapie, Ergotherapie, Logopädie, Frühintervention, Entwicklungsförderung, Verhaltensmanagement, Psychosoziale Unterstützung, Augenärztliche Betreuung, Nephrologische Betreuung, Genetische Beratung

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Bardet-Biedl syndrome is caused by mutations in several genes important for the structure and function of cilia. These mutations affect the function of the cilia and lead to the characteristic features of the disorder.

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- Medical treatment of comorbidities<br>- Endocrinological care and metabolic control<br>- Developmental and behavioral interventions<br>- Support through specialized educational plans and pedagogical measures<br>- Family counseling and support

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Bardet-Biedl syndrome was first described in 1920 by Georges Louis Bardet and Arthur Biedl. It is a rare genetic disorder caused by mutations in multiple genes. Key features include visual impairment, obesity, kidney problems and extremity abnormalities. Treatment focuses on managing symptoms and supporting development.

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