- Facial characteristics that are unusual
- Stature is short
- Defects of the heart
- Other problems physically
- Possible low intelligence
There is currently no precise treatment for this syndrome. Treatment is focused on managing the disorder’s symptoms as well as difficulties that can arise. Growth hormone can be needed to manage short stature in certain individuals with this syndrome.
Noonan Syndrome Symptoms
Facial features
The way an individual’s face appears is one of the main clues which leads to the diagnosis of this syndrome. These appearances or signs alter with age:Early infancy
When the baby is younger than one month old, it can have eyes that are down-slanting and wide set, ears that are low-set, groove that is deep and peaks that are wide in the upper lip, neck that is short as well as a hairline that is low in the back.Infancy
The baby can have eyes that are prominent that slant downward as well as lids that are thickened and a nose depressed at the top with a base that is wide and a tip that is bulbous.Childhood
Often there is a lack of any facial expression.Adolescence
The face is usually wide at the forehead and tapers to a chin that is pointed. Features of the face become sharper as well as the eyes become less perceptible. The neck elongates revealing additional folds of skin – webbed neck or neck that is prominent – trapezuius – muscles.Adulthood
When an individual with this syndrome becomes an adult, the crease running from the edge of the nose to the corner of the mouth is prominent and the skin can appear transparent and be wrinkled.Heart disease
Approximately 80% of individuals with this syndrome have heart disease that is congenital, which accounts for some of the key symptoms and signs. Pediatric cardiologists are normally the first physicians to see those with Noonan syndrome. Several types of heart disease that are congenital and linked with this disorder include:Disorders with valve
Pulmonary valve stenosis is the narrowing of the pulmonary valve, which is the tissue flap separating the right lower chamber or ventricle of the heart from the pulmonary artery that supplies blood to the lungs. This is the most common problem with the heart seen with this syndrome.Heart muscle thickening – hypertrophic cardiomyopathy
Abnormal thickening or growth of the heart muscle – affects 20% of those with Noonan syndrome.Other defects
Individuals with this syndrome frequently have structural problems of the heart. These defects include a hole in the wall which splits up the lower 2 chambers of the heart – ventricular septal defect, or another condition causing arteries to narrow – pulmonary artery stenosis.Growth problems
The child’s birth weight will more than likely be normal but many of these children have problems with feeding causing poor gain of weight until about 18 months old. The spurt of growth that is normally seen during adolescence could be delayed in the child with this syndrome but since this disease makes bone maturity delayed, the child has the probability for growth to continue into the 20s.Issues with musculoskeletal
Often individuals with Noonan syndrome have chests that are unusually shaped with a sternum that is sunken or raised. A short neck as well as wide-set nipples with webbed neck is also common.Disabilities with learning
Intelligence is not affected with this syndrome but there is an amplified risk of learning disabilities. But, it is not unusual for individuals to finish high school, go to college and have careers.Eye problems
These are abnormalities of the eyelids and the eyes. Trademark features are differences in the size and shape of the eyes. The iris may be green or pale blue. There can be problems with the muscles of the eye, refractive problems, movement of the eyes that is rapid and problems with the eye nerves.Το άρθρο είναι από το site : http://byebyedoctor.com/noonan-syndrome/
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