Top 15 Rare Genetic Disorders You Were Unaware of

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Any abnormalities in a person’s genome create a genetic disorder. These can be hereditary or can be due to new mutations in DNA. Names of some rarest genetic disorders are given below.

Top 15 Rare Genetic Disorders You Were Unaware of

1. Progeria


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This is a rare disease that makes the body of the child age faster than normal. In simple words, a child’s body resembles an old person body even before they reach the age of adolescence. The maximum age seen in a child having Progeria is 13.

2. Hypetrichoosis


(Image credit: www.reddit.com)

Aka werewolf syndrome is the growth of an abnormal amount of hairs on the body. This growth is spread on the entire body. Hypertrichosis is so rare that there are only 50 known cases of it in the world.

3. Fibrodysplasia Ossificans Progressiva


(Image credit: www.ifopa.org)

When the muscles tissues of the body are replaced with bones that condition is called Fibrodysplasia Ossificans Progressiva. This occurs in 1 out of 2 million people.

4. Epidermolysis Bullosa


(Image credit: www.skinawareness.org)

It’s a skin disorder that makes skin so soft that even the rarest amount of friction results in scar or blister. Skin starts to develop blisters outside or inside which makes normal tasks very difficult. In this condition itching and ticking are impossible without some serious consequences.

5. Hydrocephalus


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It’s a rare condition that fills the skull of a person with cerebrospinal fluid. This is a dangerous condition as it puts high pressure on the brain. It’s rare as it only occurs in 1.5 per 1000 babies.

6. Proteus syndrome


(Image credit: www.jamanetwork.com)

It is an extremely rare condition as there are only around 1000 known cases of this disorder. This soft tissue or bone of a person starts overgrowing abnormally which makes that specific organ whose tissue or bone is growing bigger than the rest of the body.

7. Epidermodysplasia Verruciformis


(Image credit: www.deccanchronicle.com)

This disorder is so rare that only around 200 cases are known. The exact frequency of this disorder is missing. In this condition, skin starts growing wartv especially on hands and legs and these warts get harden and big with time. This condition is also associated with skin cancer which makes it a more fatal disease.

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8. Diprosopus

(Image credit: Health Line)

It is also known as craniofacial duplication and as its name suggested it creates duplication in the body parts of the fetus, it’s results can vary from an infant having more than one nose to an infant having a double face. It’s an extremely rare condition that occurs in 10.25 out of 10 million births.

9. Anencephaly


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In this disorder, the part of the skull called the cerebral is underdeveloped or have some missing bones. It is a birth defect that occurs in infants and most of these infants could not survive after a few hours or a few days.

10. Severe Immunodeficiency


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None or lack of immunity creates this condition. Back in time this condition always resulted in death but now scientists have developed a new bubble environment that makes the child more prone to live longer.

11. Cutaneous Horn


(Image credit: www.healthline.com)

It is an unusual type of skin tumour where a horn appears on the skin. The horn is mostly small but can be large in some rare cases. This horn can be of wood or coral.

12. Harlequin-Type Ichthyosis


(Image credit: www.hindustantimes.com)

It affects the skin of an infant resulting in the hardening of the skin an infant. The newborn has very thick skin very cracks in it and abnormal features. There is no curb of it and most of the time it ends in the death of the newborn. It occurs in 1 in 300,000 births.

13. Ectrodactyly


(Image credit: www.escholarship.org)

It is also known as lobster claw hand. In this, the hand or feet of the person have a cleft. In other words, they only have a thumb, one or two-finger usually the last or middle finger. It will occur in around 1 out of 90000 births.

14. Uner Tan Syndrome


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People affected by this syndrome have severe mental retardation and speech impairment but what makes them very rare and different is that they walk on their hands and feet. It is linked with incest or intrafamilial reproduction. It’s so rare that only 6 cases have been fond of it and in all of these cases while families are affected by it.

15. Trimethylaminuria

(Image credit: www.onmogul.com)

It is also known as fish odour syndrome. In this condition, a strong odour is released in the sweat, urine, reproductive fluid and breath of the person suffering from such diseases. It’s a rare disorder whose exact frequency of incidents is unknown.

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