Thursday, November 26

10 Unusual and Weird Genetic Disorders

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Genes play an important role in shaping how we look and act. We inherit these genes from our ancestries especially parents. This is why you are different to others. You have a different hair color, eye color and height. There are times that the genes can cause health problems. A person can be born with a gene mutation which you did not know even existed.

These genetic disorders are rare, but a handful of people around the world suffer with these disorders. In early times, the public due to the lack of knowledge about heredity despised these individuals. Today, however, people with genetic disorders are provided with care and support to help them through life.

Scientists have discovered that there are more than 4000 types of these disorders. The disorder is common when a person has an extra copy of genes or an extra DNA code that disrupts the gene’s regular function. A genetic disorder occurs when genes do not function properly or when exposed to certain chemicals from the environment that affect them. Any part of the human body can be affected by genetic disorders.

Here are some weird genetic disorders that you were not aware of:

1. Marfan Syndrome

This weird genetic disorder is rare, but can be present in many different ways. This disorder affects the body’s connective tissues. This can be inherited from parents where a person can have longer fingers, legs, arms or toes. It can cause problems to the eyes, joints, bones and heart. People with this syndrome will usually appear taller than normal, have a lanky built, deep-set eyes and a long face.

According to doctors, this syndrome does not cause learning disabilities, but there is no direct cure for this syndrome. However, doctors can treat the associated problems of this syndrome.

2. Progeria

When a person rapidly ages from childhood, they are suffering from Progeria. The child when born appears normal, but in a short period of time develops distinctive characteristics such as baldness and aging skin. This disorder may cause health problems such as kidney failure, loss of eyesight and heart conditions.

3. Mermaid Syndrome

This condition is visible when a baby is born. The lower part of the body has no tailbone and both legs can be fused together bearing a resemblance of a mermaid. The cause of this syndrome is still being researched as it is an extremely complex and rare malformation with different degrees of lower-extremities.

4. Proteus Syndrome

This syndrome may not be apparent at birth, but can is visible as the child develops. It is commonly apparent between ages 6 and 18 months. Proteus can cause tissue overgrowth and may even lead to a tumor development. Overgrowth can occur with the skin, connective tissues, organs, bones, brain and other tissues. It is characterized as a genetic mutation. Surgery is possible for removal of painful tumors or if the syndrome is life threatening.

5. Severe Combined Immunodeficiency Disorder (SCID)

This disorder occurs when a child is born without an effective immune system or when components of the immune system is defective. A child with SCID is at risk if they come in contact with a life-threatening infection. Infections are hard to treat and can occur in the lungs, around the brain, spinal cord or blood stream. There are treatments for this disorder. This is why it is important to consult a genetic specialist to learn about this disorder if detected in in your family.

6. Ectrodactyly

A possible rare deformation can occur during pregnancy. This disorder is found when people have a split hand or split foot malformation. There is a failure of formation of the fingers and toes along with overgrowth or duplications. Surgery can help in some cases, but it may not be possible for all due to severe limb deformities.

7. Lesch-Nyhan Syndrome

A syndrome that is a rare hereditary disorder often exclusive to the male gender. It is associated with neurological and behavioral abnormalities. This syndrome makes it difficult for a person to walk and sit. They also tend to bite their nails or bang their heads because they lack the moderate intellectual ability.

8. Trimethylaminuria

This is an uncommon, but an unpleasant syndrome that is also known as the fish odor syndrome. This is because the body fails to process certain body chemicals. It occurs when the normal metabolic process fails. Trimethylamine accumulates in the body and is detected when the person sweats or breaths.

9. Hypertrichosis

If you see people with excessive hair growth especially on their face, it could be that they are suffering from a weird genetic disorder called Hypertrichosis. They experience hair growth in areas that do not normally have hair. Fortunately, there are treatments that can reduce the appearance of this disorder such as cosmetic procedures, intense pulsed light source, laser treatment and pharmacological treatment.

10. Uner Tan Syndrome

Completely rare but a possibility, this syndrome occurs when grown children and adults walk using their hands and legs. These individuals may also suffer from severe mental retardation.


About Author

Fiona Thompson

Staff writer / Avid internet junkie / Devoted music aficionado