MIX

This is not some kind of joke. Harlequin disease is a rare birth defect that causes the child to have many reptilian features, such as the absence of a nose and ears, "scaly" skin, deformed limbs that are unable to bend, and wide open lips. The disease has no known cure, though doctors have found that the drug Isotrex can allow them to (in very rare cases) live through adolescence, and sometimes adulthood. More information can be found here: http://en.wikipedia.org/wiki/Harlequin_type_ichthyosis
This is a video showing what the child would look like: http://www.youtube.com/watch?v=7xW4TVRLSgg

This all leads to a question that I have: What would you do if your child was diagnosed with Halequin Ichthyosis?

Tags: baby, defect, disease

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Harlequin's disease is very painful due to the cracking of the skin and the baby has difficulty breathing and of course regular activity. The disease is caused by a mutation of the ABCA 12 gene which interrupts the transport of lipids around the skin. Since the disease is very rare they do not typically test for it during normal fetus development. All of the footage that I have seen of this disease comes from Southeast Asia and the Middle East (that is where I am guessing the video is from due to the bizarre choice of musical accompaniment with the video. Perhaps the mutation can be discovered and through genetic screening and the fetus can be aborted.

Ref links: http://ghr.nlm.nih.gov/condition=harlequinichthyosis

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