Noonan Syndrome is a genetic disease caused by mutation of a gene. Its occurrence is of 1 case in every 1,000 to 2,500 births, being able to affect men and women. Its main characteristics are short, a typical face appearance and the cardiac malformations.
People with Noonan Syndrome have a below-average height since early childhood. In general, men do not grow more than 1.62 m and women do 1.5 m.
The face shows typical signs: the face has a triangular shape, the corners of the eyes are turned down, the eyelids are drooping, the eyes are farther apart and the ears are rounded.
The neck is short and wider than normal; The sternum bone, located in the middle of the chest, is more prominent at the top and "sunk" at the bottom. There may also be dental malocclusion, anomalies in the vertebrae of the spine, enlargement of the fingertips, and other bone abnormalities.
Noonan Syndrome can also cause changes in the skin, kidneys, lungs, lymphatic system and blood coagulation.
About 30% of individuals with Noonan Syndrome have a mild degree of intellectual disability, with a delay in neuropsychomotor development.
Noonan syndrome can occur at random (new mutation) or be inherited from the father or mother. The diagnosis is made by clinical examination and molecular testing.
The treatment of Noonan Syndrome consists of therapies that stimulate the individual during childhood, psychopedagogy, pediatric follow-up, use of growth hormone and treatment of the changes verified in each case.
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