Noonan syndrome Adriana.U

NOONAN SYNDROME

ADRIANA URÍA

1. WHAT IS IT?

Noonan syndrome is a genetic disease that stops normal development in various parts of the body. And it is present from the moment of birth. It can affect the person in several ways, for example unusual facial features, short stature, heart problems among others.

2. HOW IS IT CAUSED?

This syndrome is linked to defects in several genes, since certain proteins involved in the growth and developement become hyperactive, generating these genetic changes. Only one of the parents has to be carrier of the defective gene for the baby to have the syndrome.

3. Physical characteristics

Some of them are:·Big head with a triangle shape and a wide forehead·Separated and inclined downwards eyes ·Very low ears and small chin ·Thin and excessive skin on the neck, wich is very short ·Deformity of the sternum

4.RELATED PROBLEMS:

-Many people that are born with this disease, are also born with heart problems. -They also have growth problems and eating disorders. -Bone and muscular problems. -It doesn´t affect intelligence but learning, since they can have hearing and visual problems.

5. CAN IT BE TRATED?

Although Noonan syndrome has no cure, treatments can help to reduce its effects. For example, the growth hormone has been used in many cases to treat short stature.

6. CURIOSITIES

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1 in 1000 to 2000 people is born with the disease

The first case detected was in 1963

It affects both men and women equally