Cystic fibrosis (CF)
Trusted information describing cystic fibrosis, symptoms and how it is diagnosed (CF), as well as links to additional resources and care practices.
Genetics of dementia
Trusted information about the genetics of dementia, including rare types of inherited dementia and genetic counselling
Williams syndrome is a genetic condition that can cause development, learning and health problems. While it can’t be cured, treatment of the condition can manage the symptoms. Read our trusted partner content to find out more.
Tuberous sclerosis affects parts of the body, behaviour and thinking. If you notice symptoms you should see a doctor, but there are ways to manage the disease.
Edwards syndrome (Trisomy 18)
Edwards syndrome, also called Trisomy 18, is a genetic disorder in babies that causes severe disability. It is caused by an extra copy of chromosome 18.
People with this syndrome make involuntary repetitive sounds and movements. Most don't need treatment, and relaxation exercises may reduce symptoms.
Links to information about haemochromatosis, iron deficiency and iron-rich foods
Marfan syndrome is caused by a gene abnormality which affects the connective tissue that strengthens and stabilises your joints and muscles.
Oral-facial cleft lip and palate
Learn about oral-facial cleft lip and cleft palate - birth defects in which the tissues of the mouth or lip don't form properly during foetal development.
Trusted information about hernia types.