Genetic disorders
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.
Read more
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.
Read more
Apert syndrome
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.
Read more
G6PD deficiency
G6PD deficiency, sometimes called 'favism', is a genetic disorder that causes red blood cells to break down when exposed to triggers. People with G6PD deficiency can live a healthy life.
Read more
Fabry disease
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.
Read more
Cystic fibrosis (CF)
Cystic fibrosis (CF) is a disease affecting the lungs and digestive system. Treatments can improve the quality of life for people living with CF.
Read more
Charcot-Marie-Tooth disease
This group of genetic conditions affects the nervous system, usually the hand and foot muscles first. It worsens, but some therapies are effective.
Read more
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.
Read more
Turner syndrome
Turner syndrome is a genetic disorder caused by a missing or partially missing X chromosome. Find out more about its symptoms and treatments here.
Read more
Prader-Willi syndrome
Adults with Prader-Willi may experience sleeping and breathing problems, and have an insatiable appetite, which can lead to life-threatening obesity.
Read more