Baby With Harlequin Ichthyosis - Extreme Genetic Disorder

This baby is afflicted with a rare gentic disorder that produces, an underdeveloped body, hardened skin, with cracks and fissures - I am not exactly sure of the direct origin of this video.

From Genetics Home Reference link Harlequin Ichthyosis Information


What is harlequin ichthyosis?

Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large diamond-shaped plates separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and restrict movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.

The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids from the body (dehydration) and develop life-threatening infections during the newborn period.
How common is harlequin ichthyosis?

Harlequin ichthyosis is very rare; its exact incidence is unknown.
mauz15says...

I insist you remove the WTF, and Dark channel label, even the 'Fear' label is debatable.
Under what basis do you correlate a rare disorder who happens to occur to this poor kid and 'WTF, Dark, and Fear' as appropriate labeling?

And the demon tags. Unless for some reason this disease has some 'common name' with the word demon on it. Otherwise I find it completely ill-bred to come up with such tag for a video of this nature.

siftbotsays...

Tags for this video have been changed from 'baby, hard, skin, cracks, alive, not, to, adulthood, rare, demon, child' to 'baby, hard, skin, cracks, alive, not, to, adulthood, rare, child' - edited by laura

EDDsays...

Poor child. I suppose this kicks mortality rate up quite a bit, too. And what about vision-I wonder if this child can see at all? Anyway, this is just another reason to support genetic research - I guess sooner or later people should find a way to treat these kinds of mutations.

Zonbiesays...

I think the WTF channel applies here - I am not trivialising the disorder (hence I posted up the medical info on it) As for Dark - It's a baby with a severe disorder causing hardened skin, eyescoagulated blood, turned out.

and Fear channel application well - not fear of the baby, thats not why I put this channel in, Fear for this happening to your children, no one wants anything like this.

As for the tag, well, I didn't like it either, but it was to help people find dupes since people on Youtube some referenced "demon baby" as the title.

Zonbiesays...

>> ^EDD:
Poor child. I suppose this kicks mortality rate up quite a bit, too. And what about vision-I wonder if this child can see at all? Anyway, this is just another reason to support genetic research - I guess sooner or later people should find a way to treat these kinds of mutations.


There are cases of people surviving -

In general, harlequin foetuses do not survive for very long. In the past, the life expectancy for a harlequin foetus was about two weeks; however, intensive supportive care and the use of drugs has prolonged the lifespan of these babies and some have made it into adulthood. However, the average lifespan is much lower, and the babies usually suffer from physical developmental delay, although intellectual development has been reported to be normal.
http://www.bbc.co.uk/dna/h2g2/A3816830

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