Guide to genetic disorders
Problems with genes can cause health or development problems. Some genetic disorders affect people from birth, others develop later in life. Learn more from a trusted source.
Family medical history
Knowing your family medical history is important. It can guide you in making changes that will reduce your risk of developing a hereditary condition.
Fabry disease is a rare genetic disorder that can affect many parts of the body and lead to many different types of symptom. Learn more here about the condition and treatments to manage the symptoms.
Cystic fibrosis (CF)
Cystic fibrosis is a disease affecting the lungs and digestive system. Learn more about cystic fibrosis (CF), including its symptoms, treatment options and how it's diagnosed.
Browse our index of articles on genetic disorders to learn about a specific condition. Information includes signs and symptoms of the condition, how it is diagnosed and where to go for support.
Fragile X syndrome
Fragile X causes intellectual disability, behavioural and learning difficulties, and physical problems. It’s the commonest genetic cause of autism.
Williams syndrome can cause development, learning and medical problems, although children with it often have well-developed language and music skills.
Genetics of dementia
There isn't a single gene that is responsible for most types of dementia. However, some rare types of dementia can be inherited.
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia affects the hormones. People with the condition will have health problems, but might still enjoy a normal lifestyle.
Apert syndrome is a rare condition that causes an abnormally shaped skull and fused fingers and toes. Other body parts and organs are also affected. Surgery and other treatments can, however, help development.