Interesting rare diseases list

GigantismThis disease, which according to the NIH is most often caused by a begnin tumor in the pituitary gland, results in an excess of GH, or growth hormone. This causes sufferers to grow abnormally large, not just in terms of height, weight but also organ size. It results in complications like delayed puberty, increased sweating, and secretion of breast milk.

Characterized as an eating disorder, Pica causes people to eat what the National Organization for Rare Disorders describes as "non-nutritive" things. That umbrella term can include (but isn't limited to) dirt, clay, paper, and paint. Interestingly, it's not unusual for young kids to experience transient pica as a kind of phase, and pregnant women are also known to develop temporary pica cravings.Pica The cause? Unknown. But in order to be diagnosed with full-blown Pica, a person's symptoms must last for more than a month.

MSUD, which is passed down through families, is a life-threatening metabolic disorder passed down through families that stems from the body's inability to process certain amino acids, leading to a build-up of them in the body. According to the NIH, symptoms usually surface in early infancy and can include vomiting, lack of energy, seizures, and developmental delays. MSUD takes its name from another symptom - the urine in affected infants smells like caramel or maple syrup.

Situs Inversus is a congential condition in which internal organs of stomach and chest lie in mirror image of their normal body position - something many sufferers aren't aware of until they seek medical help for an unrelated problem. People with Situs Inversus typically wear some form of identification to help doctors in the case of a medical emergency.

Maple Syrup Urine DiseaseTrigger thumb, or trigger finger as it's sometimes known, causes a person's finger or thumb to get caught in a locked position. According to the Mayo Clinic, it can then stay stuck or straighten with a painful "snap." The cause? It depends. Trigger Thumb is the result of a narrowing of the sheath around the tendon in the problem figure, but that can be caused by a lot of things, including any activity that requires people to grip things frequently. Trigger Thumb is also more frequent in women.

Once the disease of sailors and pirates, scurvy does still exist in the United States, though predominantly in older, malnourished adults. It usually stems from a Vitamin C deficiency, which can result in gum disease, skin leisons, and swelling of the joints.

This progressive genetic disorder causes sufferers to store excess copper in tissues, including the brain and liver. Though the Mayo Clinic says that the body depends on copper in order to use iron and sugar, too much of it in the body can have real consequences. Which is why sufferers of Wilson's Disease are prone to liver failure.

Situs Inversus Trigger Thumb Scurvy Wilson's Disease
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Popular Q&A

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When is a disease considered rare?

A rare disease is a disease that has less than a 1 in 200,000 frequency in the United States.
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