10 More Fascinatingly Rare Disorders

10 Unusual Genetic Conditions That Exist Only in Humans

It’s true that two people are very different in every way. They look different, think different, act different and talk different. Our genes are responsible for creating a difference yet creating similarities within individuals. But sometimes our gene behaves in an abnormal way that leads to mutation causing unusual genetic conditions in humans. Here are the list of 10 genetic conditions that exist only in humans.

1. Progeria

This is a very rare genetic condition which shows no mercy. Progeria is also known as ” Hutchinson-Gilford”. The characteristics of this disease is accelerated aging. This is a very rare disease and effects 1 in a million live birth. The life span of child diagnosed with this disease is very short, children die around the age of 14. Progeria is caused due to mutation in LMNA gene which is an essential protein supporting nucleus. Most children die of stroke or a major heart attack.

2. Uner Tan Syndrome

One of the feature of this syndrome is that people walk with all 4 limbs. This type of mutation was discovered first by Uner Tan, a Turkish biologist. Primitive speech, underdeveloped brain and walking with all 4 limbs are the typical features of people suffering with Uner Tan Syndrome.

3. Hypertrichosis

Hypertrichosis is also known as “werewolf syndrome” meaning that excessive unwanted hair grows around ears, face hands and legs. It is a very rare genetic condition as it merely effects 1 in a billion. Experts says that this genetic condition is due to chromosome rearrangement at fetus.

4. Epidermodysplasia Verruciformis

People suffering from Epidermodysplasia Verruciformis are prone to HPV infection. HPV refers to human papillomavirus. This infection causes scales to grow all around the body. The scales slowly turns into tumors and lesions. There is no any treatment for this deadly mutation and sadly the person dies of this genetic dysfunction.

5. Severe Combined Immunodeficiency Disorder (SCID)

Severe Combined Immunodeficiency Disorder is a genetic disorder which causes body immune system to weaken. People with this disorder are prone to any air borne disease, infections and disease. The film “The boy in the Plastic bubble” shows the life of David Vetter who was born with this disease. He died of bone marrow disorder. Complete sterilization for 24 hours is required to keep the patient alive although the life span of person with this disease is very short.

6. Ectrodactyly

Another name of this disease is lobster claw hand meaning disorder with toe or middle finger.

7. Proteus Syndrome

People with this genetic disorder have skins, tissues and bones growing asymmetrically on the left and right part of the body. People also have hearing loss and impaired brain.

8. Lesch–Nyhan Syndrome

Affecting 1 in every 380,000 birth, this disorder is characterized by biting of finger, banging of head and other self destructing behaviors. This syndrome effects mainly boys and also suffer from stones in kidney and bladder.

9. Marfan Syndrome

Typical characteristics of Marfan Syndrome are obsessive tall height, long toes, long limbs & finger and heart disorders. The mutation is mainly associated with disorder in connective tissue of the body. The internal structure of hands and limbs are distorted.

10. Trimethylaminuria

A pungent irritating smell like that of urine or rotten fish comes from the body of people suffering with this disease. This genetic disorder mainly effects women. As rotten fish like smell comes from the body of the person, thus, this is also known as Rotten Fish Disorder Syndrome. The body order seems to peak after taking oral pills or menstruation.