Medical condition/treatment
Cornelia de Lange syndrome
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Hole body
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Cornelia de Lange syndrome is a genetic disorder that causes a variety of physical, mental and behavioral characteristics, including stunted growth, mental retardation, distinctive facial features and difficulty in social interaction. It is caused by mutations in various genes.
Causes/Description:
Cornelia de Lange syndrome is a genetic disorder caused by mutations in several genes, including the NIPBL, SMC1A and SMC3 genes. 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, Ernährungsberatung, Sozialintegration, Familienunterstützung, Genetische Beratung
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Cornelia de Lange syndrome is caused by mutations in several genes, including the NIPBL gene. These gene mutations affect the development of various body systems and lead to the characteristic features of the disorder.
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- Early intervention and early support<br>- Nutritional management and weight control<br>- Speech and communication therapy<br>- Physiotherapy to improve mobility<br>- Family counseling and support
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Cornelia de Lange syndrome was first described by C. de Lange in 1933. It is a genetic disease caused by mutations in multiple genes. Symptoms include stunted growth, intellectual disabilities, distinctive facial features, and behavioral problems. Treatment focuses on managing symptoms and supporting development.