harlequin ichthyosis: Genetic disorder: Cause, story


What is harlequin ichthyosis: Things to know

Harlequin ichthyosis: It is a severe and rarest genetic disorders which specially affects the skin. Extremely rare infants born with this severe disorder. You must not have heard of it.  It is a very painful genetic disorder. Recently a child born in Bihar, India with harlequin ichthyosis syndrome. Recent story says that the whole body of child is mounted in a shield of dry and thick white plate of cracked skin. This article is written under the Rare Disease. Let’s know about it in detail:

Things to know about harlequin ichthyosis

  1. This disorder mainly have an effect on the skin. Harlequin baby are born with very hard, thick and cracked skin.
  2. This disorder attack the shape of the eyelid, nose, mouth and ears.
  3. It also minimizes the movement of arms and legs.
  4. Cause: This disease is caused by a frame shift mutation or a large deletion. Frame shift mutation occurs when a protein is drastically altered due to insertion or deletion. Deletion is a deficiency in which a sequence if DNA/ a part of chromosomes is lost during DNA replications. Thus, these Chromosome abnormalities affects the development of epidermis (make up the skin).
  5. Recent advancement made the babies to survive now a days.

Awareness Message: Spread love and awareness

Everyone deserves a chance to live a normal life. No one can imagine what sufferer is going through. This disease is one of the worst disorders. Feeling sad for those Child who born with such painful disorders. It is quite difficult to deal with person who has rare disease. Entrusting love and respect should be given priority. DO NOT HATE ANYONE. I hope every human being will understand what I want to spread. Please give your feedback in comment box.

                                                        “Never Give up”

Read also: Breast Cancer Home remedies, Awareness

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