Princess Kenshi P.

Quitor 10- Emerald

10-17-19

GENETIC DISORDERS

1. 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. Angelman syndrome - is a genetic condition. Most people with

Angelman syndrome have a gene called UBE3A that is absent or
faulty.
3. Apert syndrome - is a rare condition that causes an abnormally
shaped skull, fused fingers and toes. Surgery and other treatments
can help development.
4. 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.

5. Cystic fibrosis (CF) - is a disease affecting the lungs and digestive

system. Treatments can improve the quality of life for people
living with CF.
6. Down syndrome - This syndrome causes learning difficulties, with a
greater chance of health problems. Everyone is affected differently.
7. Ehlers-Danlos syndrome - 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.

8. Fragile X syndrome - causes intellectual disability, behavioural

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

10. Marfan syndrome - is a disorder that affects the connective

tissue that strengthens and stabilises your joints and muscles. It
generally affects the limbs, but can also affect the spine, sternum,
eyes, heart and blood vessels.This condition affects tissue that
strengthens and stabilises joints and muscles. People with Marfan
syndrome are often tall and long-limbed.