Rare inherited diseases list
There are hundreds of diseases and disorders affecting people around the world. A few diseases are known as common diseases and a few are really rare diseases. These rare diseases are mostly genetic diseases. Although considered to be rare, the rare diseases list runs really long. The rare diseases are called orphan disease. This is because they affect really, really small percentage of population and are rare genetic disorders. Not many studies and research is conducted for these rare diseases. In the following paragraphs, we shall see a rare diseases and disorders list. But before we go into the rare diseases list, let us learn about a few really rare diseases.
Very Rare Diseases List and Symptoms
There are plenty of rare diseases that are really, really rare like the werewolf syndrome. They occur sporadically and there have very few reported cases worldwide. Some of these very diseases list and symptoms are mentioned below.
Ribose-5-phosphate isomerase Deficiency
This is the rarest disease in the world with just one patient diagnosed with the condition. The symptoms of the rare diseases were diagnosed after the affected boy was diagnosed with leukoencephalopathy. The patient had an increase in polyols arabitol, ribitol and erythritol in his SPECT profile. This disorder causes mutation in the pentose phosphate pathway enzyme.
The Apert syndrome is a congenital disorder. It is characterized by the malformed skull, face, hands and feet. The fingers or toes are fused together and some patients also show Synechia. This is fusion of two or more nails of the digits. This is a slow progressive disease, where the joints continue to grow with age.
This is a rare autosomal recessive chromosomal disorder. The Bloom syndrome (BLM) or Bloom-Torre-Machacek syndrome is characterized by patients with short stature. They have a facial rash developing after they are exposed to sun. The rash looks like a butterfly shaped patch of red skin on the cheeks. These patients also have distinctive facial features, micrognathism of mandible, high-pitched voice, dilated blood vessels, etc. There are many more symptoms associated with this disease like diabetes, infertility in males, and a few patients suffer from mental retardation. You would be interested to learn more about a rare brain disorder called Ataxia Telangiectasia Syndrome.
This is a very rare degenerative neurological disorder. The symptoms of this disease include dementia, memory loss, hallucinations as well as changes in personality. This is a progressive disease that causes death of nerve cells of the brain. This is an incurable and fatal disease.
This is a rare congenital disorder, named after Hans Zellweger, who researched on this disorder. This is an autosomal recessive disorder that is caused by mutation of genes. It causes impairment of multiple organ system due to accumulation of lipids. Most patients do not survive beyond the age of one.
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