Noonan Syndrome. About a genetic disorder, symptoms, causes,impact,bibliography

Essay by robzombieismyloverHigh School, 10th gradeA-, January 2004

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Noonan Syndrome

Formerly know in the medical world as Turner-like Syndrome, Noonan Syndrome is a

genetic disorder that causes abnormal development of multiple parts of the body. It is equally

present in both males and females(Gandy p.1). Noonan Syndrome affects 1 out of every

1,000-2,500 live births(Gandy p.1). One gene ,PTPN11, has been discovered to cause Noonan

Syndrome, but there are believed to be others(Gandy p.4). Your offspring may be at risk if you

or your spouse have Noonan Syndrome but it isn't know as a hereditary disease.

What happens to cause the physical defects to the child in the womb is very interesting.

The lymphatic vessels dilate ,which is usually congenital, and produce enlargement of various

parts of the child's body (Gandy p.1, Bantam p.252). This also may be caused by the obstruction

of the lymphatic vessels(Bantam p.252). All this occurs during the very critical period in prenatal

development, which is the time 3 months before birth to one month after birth (Gandy p.1)


some cases cystic hygromas and edema have been detected prenataly. Edema, also know as

dropsy, is the result of excessive fluid accumulation in body tissue that causes swelling, this

continues throughout the patients life(Bantam p.137).

The symptoms apparent in newborns include hypertelorism, a deeply grooved upper lip,

low-set posteriorly-rotated ears, a high-arched palate and unusually small jaws(Gandy p.1). 40%

of children with Noonan Syndrome do not thrive as infants(Gandy p.2). Infants have large heads

with deformed skull bones that give it a pointed appearance, which is called turricephaly(Bantam

p. 312). More face anomalies are distinguishable during infancy than when a Noonan Syndrome

patient is a baby. The eyes become more prominent with eyelid clefts, the eyelids also become

thickly-hooded(Gandy p.2). Upper eyelids also droop abnormally(Gandy p.2). Noonan

Syndrome infants have a nose with...