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.
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.
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.
Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin deficiency (AATD) is a common, inherited genetic condition that can cause chronic lung and liver disease. Treatment can slow down the progress of the disease. Learn more here.
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 (CF) is a disease affecting the lungs and digestive system. Treatments can improve the quality of life for people living with CF.
This genetic disorder involves sensory, developmental and hormonal symptoms, but most girls and women with Turner syndrome enjoy a normal life.
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.
Adults with Prader-Willi may experience sleeping and breathing problems, and have an insatiable appetite, which can lead to life-threatening obesity.
Affecting males, symptoms can include small genitals and infertility. It's estimated 1 in 500 men have Klinefelter syndrome, but most are unaware.