In this section
Genetics and genomics
- About medical genetics
- Chromosome abnormalities
- Genetic services: when, where, how
- Identification, treatment and prevention of birth defects
- Multifactorial inheritance
- Neurofibromatosis and related disorders
- Non Traditional Inheritance
- Rasopathy disorders
- Single gene defects
- Genetics and genomics support groups
- Teratogens
- The difference between a chromosome abnormality and a single gene defect
- Tuberous sclerosis
- Uses of genetic testing
- Programs and services
- Additional resources
- Patient stories
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- Genetic contact us
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Tuberous sclerosis
Tuberous sclerosis complex (TSC) is a condition that includes brain, kidney, heart and skin problems. The effects of TSC vary significantly, even within a family. Although TSC often is diagnosed in childhood, this condition also may be diagnosed during various stages of life, from before birth through adulthood. An infant diagnosed with TSC can have tumors in his or her heart called cardiac rhabdomyomas. Some infants can develop a type of seizure, called infantile spasms, which often are caused by brain lesions, called tubers. Other times, individuals may be diagnosed with TSC because of kidney problems, including cysts or other tumors, or skin problems, such as multiple white spots, called hypopigmented macules. Individuals with TSC sometimes have learning and behavior problems. TSC can be inherited from a parent, however many people with TSC have the condition as a result of a new genetic change, so they will have no family history of it. If an individual has TSC, there is a 50 percent chance of having a child with TSC. This is called autosomal dominant inheritance.
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