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.
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 (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 is a rare condition that causes an abnormally shaped skull, fused fingers and toes. Surgery and other treatments can help development.
This group of genetic conditions affects the nervous system, usually the hand and foot muscles first. It worsens, but some therapies are effective.
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia is an inherited group of conditions that affect the adrenal gland.
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 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 commonest muscular dystrophy in kids, causes gradual loss of muscle function, affecting everyday activity. Treatment may help daily life.
People with Ehlers-Danlos have very loose joints and easily bruised or stretchy skin. Symptoms can be managed, but the risk of injury is increased.
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 causes the body to absorb too much iron, leading to organ damage. Blood tests will diagnose it, and treatments are available.
Haemophilia stops blood from clotting properly, causing abnormal bleeding. It’s best managed by a multidisciplinary team of health professionals.
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.
This condition affects tissue that strengthens and stabilises joints and muscles. People with Marfan syndrome are often tall and long-limbed.
Neurofibromatosis is a manageable genetic condition characterised by benign tumours. Learn more about its symptoms, diagnosis and treatment options.
Children with Noonan syndrome may have odd facial features, restricted growth and heart defects, but most, with therapy, go on to lead normal lives.
Adults with Prader-Willi may experience sleeping and breathing problems, and have an insatiable appetite, which can lead to life-threatening obesity.
Rett syndrome causes intellectual and physical disability. It’s been described relatively recently, so it’s not known how it progresses to middle age.
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.
This inherited blood disorder prevents someone from making enough healthy haemoglobin to carry oxygen around the body, but it may not need treatment.
People with this syndrome make involuntary repetitive sounds and movements. Most don't need treatment, and relaxation exercises may reduce symptoms.
Turner syndrome is a genetic disorder that affects some females due to a missing or partially missing X chromosome.
Von Willebrand disease
People with von Willebrand disease have trouble controlling their bleeding because a blood clotting factor is either absent, low or defective.
Williams syndrome can cause development, learning and medical problems, although children with it often have well-developed language and music skills.