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Hunainabout 2 months ago
Symptoms if Noonan's syndrome

Symptoms if Noonan's syndrome

Symptoms Signs and symptoms of Noonan syndrome vary greatly among individuals and may be mild to severe. Characteristics may be related to the specific gene containing the mutation. Facial features Facial appearance is one of the key clinical features that leads to a diagnosis of Noonan syndrome. These features may be more pronounced in infants and young children, but change with age. In adulthood, these distinct features become more subtle. Features may include the following: Eyes are wide-set and down-slanting with droopy lids. Irises are pale blue or green. Ears are low-set and rotated backward. Nose is depressed at the top, with a wide base and bulbous tip. Mouth has a deep groove between the nose and the mouth and wide peaks in the upper lip. The crease that runs from the edge of the nose to the corner of the mouth becomes deeply grooved with age. Teeth may be crooked, the inside roof of the mouth (palate) may be highly arched and the lower jaw may be small. Facial features may appear coarse, but appear sharper with age. The face may appear droopy and expressionless. Head may appear large with a prominent forehead and a low hairline on the back of the head. Skin may appear thin and transparent with age. Heart disease Many people with Noonan syndrome are born with some form of heart defect (congenital heart disease), accounting for some of the key signs and symptoms of the disorder. Some heart problems can occur later in life. Some forms of congenital heart disease associated with this disorder include: Valve disorders. Pulmonary valve stenosis is a narrowing of the pulmonary valve, the flap of tissue that separates the lower right chamber (ventricle) of the heart from the artery that supplies blood to the lungs (pulmonary artery). It's the most common heart problem seen with Noonan syndrome, and it may occur alone or with other heart defects. Thickening of the heart muscle (hypertrophic cardiomyopathy). This is abnormal growth or thickening of the heart muscle that affects some people with Noonan syndrome. Other structural defects of the heart. The defects can involve a hole in the wall that separates the two lower chambers of the heart (ventricular septal defect), narrowing of the artery that carries blood to the lungs for oxygen (pulmonary artery stenosis), or narrowing of the major blood vessel (aorta) that carries blood from the heart to the body (aortic coarctation). Irregular heart rhythm. This can occur with or without structural heart abnormalities. Irregular heart rhythm occurs in the majority of people with Noonan syndrome. Growth issues Noonan syndrome can affect normal growth. Many children with Noonan syndrome don't grow at a normal rate. Issues may include the following: Birth weight will likely be normal, but growth slows over time. Eating difficulties may result in inadequate nutrition and poor weight gain. Growth hormone levels may be insufficient. The growth spurt that's usually seen during the teenage years may be delayed. But because this disorder causes bone maturity to be delayed, growth sometimes continues into the late teens. By adulthood, some people with Noonan syndrome may have normal height, but short stature is more common Picture credit amrit bangroo

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