10 Rare Genetic Disorders

A gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people. Human beings undergo constant genetic mutations. Some effects are minor like a different eye color or rate of hair growth but some can be disastrous and can cause severe deformities or conditions.

10. Severe Combined Immunodeficiency Disorder (SCID)


Severe combined immunodeficiency is an extremely rare genetic disorder characterized by a highly compromised and almost non-existent immune system due to the disturbed development of functional T cells and B cells.Children suffering from SCID are  affected by severe bacterial, viral, or fungal infections early in life and often are present with chronic conditions.

9. Progeria


Progeria also known as the Hutchinson–Gilford progeria syndrome, is an extremely rare genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age. It is estimated to affect 1 per 8 million live births. Most children with progeria essentially die off around the age of 13 due to age-related diseases, but some can live into their 20s.

8. Marfan Syndrome


Marfan syndrome is a genetic disorder of connective tissue. It is estimated that one in 3,000 to 10,000 individuals have Marfan syndrome The degree to which people are affected varies. There are about 30 different signs and symptoms associated with Marfan syndrome, most common being the bone overgrowth and loose joints. Interestingly myopia is also a symptom.

7. Uner Tan Syndrome


Uner Tan syndrome(UTS) is a syndrome that makes people walk with a quadrupedal locomotion, communicate with sounds instead of words and show signs of severe mental retardation.It was proposed by the Turkish evolutionary biologist Üner Tan.

6. Ectrodactyly


Ectrodactyly involves the absence of one or more central digits of the hand or foot. The hands and feet of people with ectrodactyly are often described as “claw-like” and may include only the thumb and one finger with similar abnormalities of the feet. Ectrodactyly is classified into five types and the chances vary from 1 in 90,000 to 1 in 10,000 at births.

5. Hypertrichosis


Hypertrichosis is an abnormal amount of hair growth over the body. It can be categorized as either generalized hypertrichosis, which occurs over the entire body, or localized hypertrichosis, which is restricted to a certain area. Due to the similar appearance to the mythical werewolf, extensive cases of hypertrichosis have informally been called werewolf syndrome.

4. Lesch–Nyhan Syndrome (LNS)


Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme called hypoxanthine-guanine phosphoribosyltransferase (HGPRT). LNS affects about one in 380,000 live births. HGPRT deficiency causes build up of uric acid in the bodily fluids causing gouty arthritis. It can also cause kidney and bladder stones. It also affects neurological function and behavior. Individuals exhibit involuntary body movements, flailing limbs and moderate intellectual disability. Self-mutilating behaviors like head banging and lip and finger biting are also common.

3. Epidermodysplasia verruciformis


Epidermodysplasia verruciformis or the Lewandowsky-Lutz dysplasia is often known as tree man illness. It is an extremely rare genetic hereditary skin disorder characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin.The HPV infections result in the growth of scaly macules and papules, particularly on the hands and feet and sometimes even on the face. There is no known cure, though treatments to scale back the growths are possible.

2. Trimethylaminuria


Trimethylaminuria is a rare endocrine disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. It smells like rotting fish, rotting eggs, garbage, or urine. The buildup of this compound in the body causes affected people to give off a strong odor in their sweat, urine, and breath. The intensity of the odor may vary over time. This can affect personal and social aspects of their lives. People with trimethylaminuria can often experience depression and social isolation .

1. Proteus Syndrome


Proteus syndrome is a rare congenital condition characterized by overgrowth of the bones, skin, and other tissues. The overgrowth is usually asymmetric and the organs and tissues affected by the disease grow out of proportion to the rest of the body. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.


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