Noonan Syndrome

Noonan syndrome is an inherited disorder which causes abnormal deformities in the body. It is also called Turner syndrome. This disorder is marked by the unusual features like hypertelorism, congenital heart disease, short structure and mental retardation. Some individuals will have bleeding diathesis. In addition, many people will have skeletal and neurological damages to varying degrees, depending on the severity of the disorder.

Causes :

The only factor for Noonan syndrome is hereditary. The defective gene which causes multiple abnormalities is the main cause for this disorder. Certain growth proteins become deficient which in turn causes developmental abnormalities in children.

One parent will pass on the defective gene to the child and hence the cause is congenital. Gene mutation occurs in many fashions giving rise to different variants in the baby.

Symptoms :

Some of the visible symptoms of Noonan syndrome are loss of hearing, delay in puberty, slanted eyes, abnormal shape of ears, short stature, mild to moderate mental retardation, small sized penis, unusual shape of the chest and webbed neck.

Physical features are strikingly marked in such children with short structure, triangular face and down slanted eyes. Face is characterized by ptosis, amblyopia, hypertelorism, refractive errors, low set ears and high nasal bridge. Chest will have scoliosis and the child will have high risk of getting congenital heart disease like arterial septal defect (ASD). The skeletal system will lack joint laxity with cervical spine fusion.

Diagnoses :

The doctor will physically examine the patient for the above symptoms and may ask him to do several tests like platelet count, blood clotting test, Echo test, ECG and EKG. Depending on the health complexity of the patient, the doctor may perform platelet count test for measuring the extent of bleeding diatheses. Genetic test will give clear picture of the extent of disorder.

Treatment :

For some children, growth hormone is injected to accelerate normal growth. This is very much given for children with short stature to improve their growth and height.

Other problems can be corrected using repairing surgeries.

Pictures of Noonan Syndrome :

Images, Pics, Pictures and Photos of Noonan Syndrome

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Complications :

The children with Noonan syndrome may have psychological as well as behavioral problems. They will have low self esteem and some infants may not be able to live long, due to intensity of disorder.

Related posts:

  1. What is Turner Syndrome?
  2. Morquio Syndrome
  3. Turner Syndrome
  4. Lesch Nyhan Syndrome
  5. Marfan Syndrome

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