9 Unusual Genetic Disorders in Humans

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9 Unusual Genetic Disorders in Humans

There are innumerable number of birth defects present in humans and animals. Out of them birth defects in humans, although rare, but there are an alarming number of reports reported. A birth-defect is in which a human being has either more than the usual number of limbs, or a disease in which the feet of the patient face backwards or there are some extra growths in the body or the parts have not been properly divided in their embryonic stages. In India, such people are either considered a little incarnation of God or evil- depending on the “type of defect”. Ever heard of stories that a ghost/entity has its feet facing backwards? Honestly, it’s just one of the birth defect seen, but these people are as normal as any other! Some people with these disorders live a normal life and some die within a half hour of their birth.

These are the diseases that have started ‘engulfing’ them even before they have taken birth and it’s the way they have been formed!
1.    Anencephaly:
Anencephaly
Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development. Infants with this disorder do not survive longer than a few hours or possibly days after their birth.

2.    Cutaneous horn:Cutaneous-horn
Cutaneous horns, also known by the Latin name cornucutaneum, are unusual keratins skin tumors with the appearance of horns, or sometimes of wood or coral. They are usually small and localized, but can, in very rare cases are much larger. Although often benign, they can also be malignant or premalignant.

3.    CyclopiaDiprosopus
Rare form of any congenital disorder characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities.

4.    Diprosopus:
Diprosopus1
Diprosopus also known ascraniofacial duplication  is an extremely rare congenital disorder whereby parts or all of the face are duplicated on the head.Most human infants with diprosopus are stillborn. Known instances of humans with diprosopus surviving for longer than minutes to hours past birth are very rare.

5.    Ectrodactyly:
Ectrodactyly
Commonly known as ‘lobster claw hand/split hand malformation’, individuals with this disorder have a cleft instead of the middle finger. This genetic malfunction generally happens when there are some deletions, translocation, and inversions in the chromosome 7.It is a rare form of a congenital disorder in which the development of the hand is disturbed. It is a type I failure of formation – longitudinal arrest.The incidence of cleft hand varies from 1 in 90,000 to 1 in 10,000 births

6.    Feet facing backwards:
Feet-facing-backwards

7.    Harlequin ichthyosis :
Harlequin-ichthyosis
A severe genetic skin disease, which causes the dermis to be around 10 times thicker than normal and grow at an exceptionally fast rate. At birth, the child’s whole body is encased in an ‘armour’ of thick white plates of skin, separated with deep cracks. In addition, the eyes, ears, penis, and the appendages may be abnormally contracted. Because of resultant cracked skin in locations where normal skin would fold, it is easily pregnable by bacteria and other contaminants, which can result in serious risk of fatal infection. Constant care is required to moisturise and protect the skin.

8.    Neurofibromatosis:
Neurofibromatosis
Refers to a number of inherited conditions that are clinically and genetically distinct and carry a high risk of tumor formation, particularly in the brain.

9.    Polymelia:
Polymelia
Polymelia is a birth defect which involves limbs. The affected individual has more than the usual number of limbs. In humans and most land-dwelling animals, the affected individuals have five or more limbs. The extra limb is most commonly shrunken and or deformed.
Sometimes an embryo start as conjoined twins, but one twin degenerates completely except for one or more limbs, which end up attached to the other twin.

By: Archa Dave

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