I am not writing this article so that you, my readers, could leave my blog horrified in any way. I just want all of you to realize how lucky you are for being normal, healthy and having no problem whatsoever. Warning, the following article may contain some disturbing images of the diseases. Continue reading it only if you are sure about it. Read More!

Treacher Collins syndrome

- characterised by craniofacial deformities
- 1/10.000 births
- typical physical features include downward slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears.

For more information on the Treacher Collins syndrome

Maybe the most known case so far is the one of Juliana Wetmore, presented below.

Goldenhar Syndrome

- characterised by incomplete development of the ear, nose, soft palate, lip, and mandible.
- 1/26.000 births
- typical physical features include incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, more than 99% of patients will have growing issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped.

Harlequin type ichthyosis

- skin disease
- the most severe form of congenital ichthyosis, characterized by a thickening of the keratin layer in fetal human skin
- in sufferers of the disease, the skin contains massive, diamond-shaped scales, and tends to have a reddish color. In addition, the eyes, ears, mouth, and other appendages may be abnormally contracted. The scaly keratin greatly limits the child’s movement. Because the skin is cracked where normal skin would fold, it is easily pregnable by bacteria and other contaminants, resulting in serious risk of fatal infection.
- The features of sufferers are deformed facially and cranially. The ears may be very poorly developed or absent entirely, as may the nose. The eyelids are severely everted (ectropion), which leaves the eyes and the area around them very susceptible to trauma.
- They are extremely susceptible to changes in temperature due to their armor-like skin, which prevents normal heat loss. This can result in hyperthermia. Their respiration is also restricted by the skin, which impedes the chest wall from expanding and drawing in enough air. This can lead to hypoventilation and respiratory failure. Harlequins are often dehydrated, as their plated skin is not well suited to keeping water in.

An incredible struggle for survival can be seen in the following video…

Documentation: http://www.friendlyfaces.org/ , http://wikipedia.org