Loose Nuchal Skin
photo by Division of Medical Genetics, Stanford University
Abnormal skin folds over the back of the neck can be a marker for genetic abnormality. Increased nuchal thickness can be seen on prenatal ultrasound in some infants with Down's syndrome, and increased nuchal lucency (thought to be related to lymphedema) has been noted in fetuses with Turner's syndrome. In the photo above, the skin over the back of the neck appears loose and floppy, as if it may have been previously distended by fluid. Webbing may also be present, but it is hard to appreciate from this angle. This infant was subsequently diagnosed with Turner's syndrome.
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