1.

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.

2. Williams syndrome can cause development, learning and medical problems, although
children with it often have well-developed language and music skills.

3. Von Willebrand disease

People with von Willebrand disease have trouble controlling their bleeding because a
blood clotting factor is either absent, low or defective.

4. 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

5. 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.

6. Congenital adrenal hyperplasia

Congenital adrenal hyperplasia affects the hormones. People with the condition will have
health problems, but might still enjoy a normal lifestyle.

7. Cystic fibrosis (CF) is a disease affecting the lungs and digestive system. Treatments
can improve the quality of life for people living with CF.

8. Down syndrome
This syndrome causes learning difficulties, with a greater chance of health problems.
Everyone is affected differently.

9. Turner syndrome affects females. It includes sensory, developmental, and hormonal

symptoms, but most females have normal intelligence and lifespan.

10. Rett syndrome causes intellectual and physical disability. It’s been described relatively
recently, so it’s not known how it progresses to middle age.
11. Fragile X syndrome
Fragile X causes intellectual disability, behavioural and learning difficulties, and physical
problems. It’s the commonest genetic cause of autism.

12. Haemochromatosis causes the body to absorb too much iron, leading to organ
damage. Blood tests will diagnose it, and treatments are available.

13. Haemophilia stops blood from clotting properly, causing abnormal bleeding. It’s best
managed by a multidisciplinary team of health professionals.

14. Tay-Sachs disease

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.

15. Klinefelter syndrome

Affecting males, symptoms can include small genitals and infertility. It's estimated 1 in
500 men have Klinefelter syndrome, but most are unaware.

16. Marfan syndrome

This condition affects tissue that strengthens and stabilises joints and muscles. People
with Marfan syndrome are often tall and long-limbed.

17. Neurofibromatosis is a relatively common genetic condition. It is characterised by the

growth of neurofibromas. These are a type of tumour that is usually benign, or non-
cancerous, although occasionally they can be cancerous. These neurofibromas can form
wherever there are nerve cells in the body.

18. Noonan syndrome

Children with Noonan syndrome may have odd facial features, restricted growth and
heart defects, but most, with therapy, go on to lead normal lives.

19. 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.
20. Tourette syndrome
People with this syndrome make involuntary repetitive sounds and movements. Most
don't need treatment, and relaxation exercises may reduce symptoms.