Genetic disorders
Albinism
Albinism is a group of genetic conditions. People with albinism have no or very little colour in their hair, skin and eyes so sun protection is vital.
Angelman syndrome
A rare syndrome causing physical and intellectual disability. It can’t be cured, but some therapies can improve the quality of life of those affected....
Ankylosing spondylitis
Ankylosing spondylitis (AS) is a type of arthritis that mainly affects your spine. There’s no cure for AS, but treatments can help ease your symptoms.
Apert syndrome
Apert syndrome is a rare condition that causes an abnormally shaped skull, fused fingers and toes. Surgery and other treatments can help development.
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease affects your nervous system. It’s a progressive disease, but some therapies can help with your CMT symptoms.
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia affects your adrenal glands and causes imbalances in the levels of certain hormones. It can be mild or severe.
Cystic fibrosis (CF)
Cystic fibrosis (CF) is a genetic disease that affects your lungs and digestive system. Learn more about what causes CF and how it is treated.
Down syndrome
Down syndrome is caused by trisomy 21. People with Down syndrome are affected differently. It causes learning difficulties, and some health problems.
Duchenne muscular dystrophy
DMD, the most common muscular dystrophy in kids, causes gradual loss of muscle function, affecting everyday activity. Treatment may help daily life.
Ehlers-Danlos syndrome
People with Ehlers-Danlos have very loose joints and easily bruised or stretchy skin. Symptoms can be managed, but there is a higher risk of injury.
Fabry disease
Fabry disease is a rare genetic disorder that can affect many parts of the body and lead to many different types of symptoms. Learn more here.
Fragile X syndrome
Fragile X syndrome is the most common inherited cause of intellectual disability. It also causes physical, behavioural and emotional difficulties.
Haemochromatosis
Haemochromatosis causes your body to absorb too much iron, leading to organ damage. Read about the symptoms, diagnosis and available treatments.
Haemophilia
Haemophilia stops blood from clotting properly, causing abnormal bleeding. It’s best managed by a multidisciplinary team of health professionals.
Huntington’s disease
Huntington's affects the nervous system and worsens over time. Symptoms include difficulty controlling limbs and cognitive and emotional changes.
Klinefelter (XXY) syndrome
Klinefelter (XXY) syndrome symptoms includes small genitals and infertility. Around 1 in 500 males have Klinefelter syndrome, but most are unaware.
Marfan syndrome
This condition affects tissue that strengthens and stabilises joints and muscles. People with Marfan syndrome are often tall and long-limbed.
Neurofibromatosis
Neurofibromatosis is a manageable genetic condition characterised by benign tumours. Learn more about its symptoms, diagnosis and treatment options.
Noonan syndrome
Children with Noonan syndrome may have unusual facial features, heart and growth problems. With therapy, most will go on to lead normal lives.
Prader-Willi syndrome
Prader-Willi syndrome (PWS) is a rare genetic condition that can cause an limitless appetite. Read more about the symptoms and treatments.
Rett syndrome
Rett syndrome causes intellectual and physical disability. It’s been described relatively recently, so it’s not known how it progresses to middle age.
Tay-Sachs disease
Babies with Tay-Sachs develop slowly, lose vision and speech and typically don't reach school age. It's more common in certain genetic groups.
Thalassaemia
This inherited blood disorder prevents someone from making enough healthy haemoglobin to carry oxygen around the body, but it may not need treatment.
Tourette syndrome
People with this syndrome make involuntary repetitive sounds and movements. Most don't need treatment, and relaxation exercises may reduce symptoms.
Turner syndrome
Turner syndrome is a genetic disorder that affects some females due to a missing or partially missing X chromosome.
Von Willebrand disease
Von Willebrand disease is a genetic bleeding disorder where people have a blood clotting factor is either absent, low or defective.
Williams syndrome
Williams syndrome can cause development, learning and medical problems, although children with it often have well-developed language and music skills.
