Every individual is unique in his or her own way. But sometimes our genetic differences can lead to unusual diseases and conditions. These medical disorders can be mild annoyances or debilitating illnesses. From elephant-sized legs to skin as delicate as a butterfly, here’s a list of some of the most intriguing genetic conditions to plague the human race.
1. Progeria 2. Ectrodactyly 3. Hypertrichosis 4. Elephantiasis 5. Epidermodysplasia 6. Poland Syndrome 7. Epidermolysis bullosa
Chamberlain Smith is a freelance writer based in Athens, Georgia.
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Progeria
Progeria is rare genetic condition that causes symptoms of premature aging along with baldness, rigid skin and bone abnormalities. The average lifespan of someone with progeria is 13 years, though some people live into their early 20s. The disease is caused by a mutation of the LMNA gene which produces protein to hold the nucleus of a cell together. There is no cure for this disease, but therapies may be implemented to ease pain and symptoms.
Photo courtesy of Wikimedia Commons
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Ectrodactyly
Split hand/foot malformation (SHFM) is the result of this condition. Ectrodactyly is often described as giving a "lobster-claw" like appearance to the affected body parts. This rare congenital disorder occurs equally in males and females but is estimated to affect less than one percent of the population. Reconstructive surgery can be considered on a case by case basis or prosthetics can be used to achieve better function of the hands or feet.
Photo courtesy of Aurélie and Sylvain Mulard via Wikimedia Commons
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Hypertrichosis
Also known as "werewolf syndrome," hypertrichosis leads to an excess amount of hair growth giving patients a resemblance to the mythical creatures. This condition can be localized to specific areas or generalized to cover the entire body. Congenital hypertrichosis occurs because of a rare gene mutation. There are multiple other forms of hypertrichosis with unknown causations. Treatments including bleaching, shaving and laser hair removal are only temporary because the hair will continue to grow back.
Internet Archive Book Images, CC-BY
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Elephantiasis
Elephantiasis, also known as lymphatic filariasis, is a rare condition characterized by the gross enlargement and swelling of areas of the body due to an accumulation of fluid from obstructed lymphatic vessels. The arms, legs and genitals are most commonly affected. Limbs can swell to several times their normal size. Legs can become so enlarged that they resemble that of an elephant, hence the common name.
Photo by Yasser, CC-BY
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Epidermodysplasia
Epidermodysplasia (EV) is an extremely rare, inherited disorder that causes skin to resemble tree bark. It is caused by a widespread human papillomavirus (HPV) infection where malignant tumors appear on sun-exposed areas of the skin. These wart-like lesions and lead to the tree bark appearance covering the skin. There is no known cure for EV, but measures can be taken to remove some of the growths.
Monirul Alam via Wikimedia Commons
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Poland Syndrome
Poland Syndrome is a birth defect where infants are born with underdeveloped or absent muscles on one side of the body. This can affect multiple parts of the body, but is most commonly characterized by the lack of major chest muscles. Individuals may sometimes experience the absence of a nipple, underdeveloped breasts, abnormal shortening of the arm and webbed fingers. The cause of Poland Syndrome is unknown.
Photo courtesy of Cchavoin via Wikimedia Commons
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Epidermolysis bullosa
This rare condition is the result of a group of diseases that cause the skin to form blisters inside and outside the body. Kids who are born with this disease are often referred to as "butterfly children" because the fragility of their skin can be compared to that of a butterfly's wing. Epidermolysis bullosa has no cure, but can be treated to manage symptoms and pain. Complications for severe forms of the conditions can be fatal.
Photo courtesy of James Heilman, MD via Wikimedia Commons