Symptoms and facial features of noonan syndrome
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.