Noonan Syndrome

Noonan Syndrome are differ in severity. This is determined by physical features & symptoms often related to heart defects. Changes in faces also appear with short stature with age. This is genetic disorder and one in 2500 and one in 1000 can get affected. It gets its name from Dr. Jacqueline Noonan who first detected it in 1963.

Symptoms

People with Noonan Syndrome display all the symptoms, which vary between severity and individuals. Around 80% of children with Noonan syndrome have heart defects like:
A hole between the lower two chambers of the heart (ventricular septal defect)
A hole between the upper two chambers of the heart (atrial septal defect)
Thickening of the heart muscles (hypertrophic cardiomyopathy)
Narrowing of the valve that takes blood from the heart to the lungs (pulmonary valve stenosis).
People with Noonan syndrome physical and facial features differ amongst themselves and are mild, like:
Short stature in correct proportion
Low set ears with frontal lobe rotations
Low hairline on back of neck
Short neck with extra skin folds, sometimes described as ‘webbing’. The folds may appear on both sides of the back of the neck, giving a round shouldered look.
Flat nasal bridge
Widely spaced eyes (Hyperterlorism).
Drooping eyelids
Large downward slanting eyes.

Causes

Spontaneous genetically changes results in Noonan Syndrome. This is runs in the families with hereditary genetic disorder.
Diagnosis
This can be diagnosed when features and characteristics are present. There are no specific test done to diagnose Noonan syndrome. When the there is uneven blood flow in the heart a heart murmur sound is heard to the doctor, this is a heart defect. Investigation usually begins at this stage. Echocardiogram is used to investigate the cause of murmur.

Treatment

There are many treatment available for Noonan syndrome depending on the problem that has occurred. Heart ailments are treated depending on how severe the condition is. Surgical treatment will be required in case there are major blockages of blood flow or structural defect. These surgeries are often successful. In case of heart failure medical treatment is advised. Only with time the heart pumping may improve.
Complications
People with Noonan syndrome can have the following complications:
Mild developmental delay. Around 10% of children with Noonan syndrome require special education, but the disorder is not normally associated with severe learning difficulties
Skin and hair abnormalities. Short and sparse or thick and curly hair may be found, along with dry patches of skin and skin blemishes
Poor muscle tone in early development, which may cause clumsiness
Swelling of the hands and feet, and the back of the neck during pregnancy, due to excess fluid
Delayed puberty in both boys and girls
Undescended testicles in 60% of boys with Noonan syndrome. This can be treated surgically at an early age
Tendency to bruise easily
Hearing problems caused by middle ear infections
Common eye problems including short sightedness and a squint. This can normally be corrected with glasses
Feeding difficulties with babies, including poor suckling and weaning. Frequent or forceful vomiting may also occur.
After birth, growth in height and weight is usually at a slightly slower rate than normal.