A fold of loose skin on the back of an infant's neck can be a sign of one of several serious syndromes. Although these syndromes might seem to be alarming, your child should still be able to enjoy a happy, industrious life as long as any associated problems are carefully monitored.
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Down syndrome is the result of an extra, duplicate chromosome that affects the development of the brain and body. Symptoms vary in severity, but the syndrome gives rise to a distinctive appearance. These include a snub nose, upward-slanting eyes, small mouth and ears, and stubby fingers. As well as loose skin at the nape of the neck, an affected infant may have lax muscle tone at birth.
Turner syndrome only affects girls and is due to an incomplete X chromosome. The disorder usually gives rise to short stature, infertility and several distinctive physical characteristics, such as low-set ears, a low hair-line at the back of the head, and severely swollen hands and feet. Girls with Turner syndrome may experience a range of chronic ailments, but, if monitored, these shouldn't have an impact on their lifespan.
Noonan syndrome can affect either sex and is a genetic mutation that may occur spontaneously or as a result of an inherited gene. Affected infants display such distinctive facial features as low-set ears, downward-slanting eyes and grooves around the lips. Slightly older infants can have puffy eyelids and a nose with a depressed bridge.
Prognosis and Treatment
Infants with Down syndrome can be affected by heart abnormalities, which can in some instances lead to early mortality. They also are at a higher risk of developing leukemia in adulthood. That said, many children with Down syndrome go on to lead happy, independent lives. Girls with Turner syndrome can be treated with growth hormones to improve their stature and hormone replacement can assist their sexual development. Noonan syndrome is associated with a range of heart issues, as well as problems with the eyes, the urinary track and abnormal bruising and bleeding. While these can seem overwhelming, individually they can usually be overcome with regular checkups, suitable medication or surgery.