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....
This rare form of arthritis affects the spine’s joints and ligaments and sometimes other joints. There’s no cure, but treatment can ease the 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 affects the hormones. People with the condition will have health problems, but might still enjoy a normal lifestyle.
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 syndrome causes learning difficulties, with a greater chance of health problems. Everyone is affected differently.
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.
Fragile X syndrome
Fragile X causes intellectual disability, behavioural and learning difficulties, and physical problems. It’s the commonest genetic cause of autism.
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.
Affecting males, symptoms can include small genitals and infertility. It's estimated 1 in 500 men 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 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/children with Tay-Sachs develop slowly, lose vision and speech, and typically don’t reach school age. It’s commoner 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.
This genetic disorder involves sensory, developmental and hormonal symptoms, but most girls and women with Turner syndrome enjoy a normal life.
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.