Noonan Syndrome

Noonan is condition that alters the normal appearance of the face and body statute. Noonan syndrome is a congenital disease meaning that it dates from birth. It is always evident but its detection may depend with its severity. Noonan syndrome does not select the race or the sex of an individual. Noonan syndrome begins at birth and it may be very difficult to establish it from only facial appearance. It becomes evident in the early child hood but again it can be difficult to be detected in the advanced age.

Noonan is caused by genes disorder that prevents the normal growth and development of the body parts. Noonan syndrome is acquired by the child when the affected gene is passed from the parent. The syndrome features may be present or absent in the parent carrying the faulty gene. In each and every child born, there is a 50 percent probability of the child contracting the disease. In some cases it is not passed from parents and it is as a result of the genes mutation.

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Symptoms and characteristics of Noonan syndrome

The symptom of the Noonan Syndrome varies from one child to another depending on its range and severity. High magnitude of effect may lead to lager heads and increase in the heart complications. Facial abnormalities are extreme to the patients who have been highly affected by the syndrome.

It commonly associated with unusual facial appearance, short statute, bleeding, heart problems, spine curvature, skeletal malformation and chest deformity. Rotated ears and small jaws are common in its patients. Blood clotting and malformation of the blood lymph nodes is also evident.

The Syndrome causes very thick eyelids in the infants. Also the skin may fold at the furthest ends of the eyes. The syndrome may cause the eyes to have blue or bluish green color. The affected kid may have smaller jaws with crowded lower set of teeth.

The patient may have excess skin around the neck area, forming web-like structures. It causes the receding hairline at the back of the neck. The Noonan Syndrome changes predictably with age. During late adulthood, the neck lengthens therefore the web structures are much visible. The face also appears course and changes to triangular shape. During the advanced age, the hairline maybe abnormally excess in the foreheads, wrinkled and almost transparent skin. During the late teenage, the eyebrows may be curvy and the hair may be curled.

The newborn with the Syndromes always attain the same weight as the normal kids. In some cases the affected new bones might have higher weight due to the excess fluid that forms at the back of the hand and on top of the feet. It is characterized by slow learning and configured face with webbed neck and the bridging of the nose. In some instance the eyes may be further apart and the patient might have drooping eyelids.

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Noonan Syndrome – Diagnosis and Treatment

Noonan can be diagnosed before birth by imaging the fetus. It can be identified as a result of unusual structure of the heart and the presence of excessive amniotic fluid. The treatment for Noonan Syndrome has not yet been discovered but its complications can be manageable. Treatment may be performed for the specific complications.

For restricted growth, growth hormone may be injected to the patient. Correctional heart surgery may be performed to the patient to minimize the defects of the heart. Close monitoring of the heart should be maintained to curb any form of emergencies that may erupt.

For those having problems with the vision, normal glasses can be prescribed to them. However for those who suffer from cataracts, eye surgery may be suggested.

For those facing slurred speech and difficulty in languages, speech therapies may be offered. They may be required to take the special classes so as to improve their speech.

Noonan Syndrome is excessively variable and in most cases it is always misdiagnosed. Noonan syndrome increases the risk of cancer in its patients. The most common type of cancer is the cancer of the blood.  It is always confused with Tuner Syndrome, which is its female version because they have several similarities. The most common difference between the two diseases is that the turner Syndrome only affects the female while the Noonan Syndrome affects both. Noonan is more common in males than in females.

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Noonan Syndrome – Life Expectancy

Research has shown that 25 percent of Noonan patients have a mental disorder. More than 50 percent of the cases involve congenital heart condition.  Ii is estimated that in every 2500 live births one of the children must be suffering from Noonan; it is prevalent in 1 out of 1000 people. The life expectancy of the affected persons depends with the severity of the disease; the absence of the cardiac complications allows the patient to live a generally normal life. The more the complications, the shorter the lifespan of the affected individual.

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