Noonan Syndrome

March 13, 20130 Comments

Noonan syndrome is a serious and complicated genetic disorder impairing the growth of the child in various forms. It not only affects the physical characteristics of the baby but also affects his mental ability. It occurs by genetic mutation during the formation of zygote. The fetus inherits from one of his parent a mutated gene but sometimes it can occur without any family history of mutated gene. Noonan syndrome has no cure and only the symptoms can be treated. It affects the normal growth of the child by retarding his growth, his height, and causing abnormal facial appearance.

Causes :

Gene mutation is the only cause for Noonan syndrome. One of the parents may have defective gene which is passed on to the fetus. Sometimes it can be spontaneous mutation during the development of the fetus. There would be continuous production of certain proteins which cause abnormality in many tissues.

Symptoms :

Face :

The first symptom of this disorder can be detected by facial features. The baby will have slanting eyes which are wide, ears are placed very low and there will be a deep groove on the upper lips. The baby will have short neck and absence of hairline on its head. Within a year or two, the child will have very prominent eyes that are slanted down, depressed nose and a bulbous tip. The child may not show any expression on his face during his development.

On attaining adolescence, his forehead becomes wide with pointed chin. The eyes becomes less prominent and the neck will have multiple folds of skin. When he becomes an adult, the crease or hairline from the nose to the mouth corner becomes prominent and his skin would be wrinkled and transparent.

Heart :

Very often the child with Noonan syndrome will have congenital heart problem. He may have hole in the wall of the chambers causing ASD (Articular septal defect) and VSD (ventricular septal defect). Further there may disorders in his valve like narrowed pulmonary valve that has to be repaired. It may cause hypertrophic cardio myopathy which is thickening of heart muscles. More than 80% of the children with Noonan syndrome will have some heart defects by birth.

Developmental Problem :

The children with his syndrome may have problems in gaining weight, though birth weight is normal. They will have retarded bone growth making them short structured. They have abnormal shape of the chest with raised sternum or sunken sternum. Their neck is too short and has multiple folds of skin resembling webbed neck.

Often, the children will have poor intelligence and hence there is increased learning disability. They have to be put on special schools but there are people who have completed their schooling and college with this syndrome.

The eyes and eyelids are abnormal. The size of the eyes is uneven and the iris is blue or greenish in color. They will have vision problems like myopia, astigmatism and hypermetropia and nerve problems in their eyes.

Lymphatic Disorder :

The lymph system is impaired in these children that would cause edema (swelling) caused by excess of fluid collection on the hands and feet.

Kidney and Genital Issues :

They will have delayed puberty. Male children will have undescended testicles and for females may have problems in fertility. Kidney problems are not noticed since they are mild.

Diagnoses :

Your doctor will look for key symptoms of the disorder on the baby. Sometimes the features are subtle and appear only after the child grows. Genetic testing can be done to confirm the problem. For identifying heart defects, ECG and echocardiogram is done.

Pictures of Noonan Syndrome :

Images, Pics, Pictures and Photos of Noonan Syndrome

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Treatment :

There is no cure for this inherited disorder. The symptoms and defects can be repaired by specific treatment. Heart problems can be corrected by surgery. The growth of the child is to be monitored continuously to ascertain he attains normal height. In case of thyroid problem, medications are given for boosting growth.

Vision problems can be corrected by wearing spectacles and more severe form of problems are surgically repaired.

For behavioral and learning disabilities, special coaching and individual therapy is considered as alternative.

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