Diseases Diseases

All You Need To Know About Rare Genetic Diseases

Published at 02/08/2012 09:20:31


Genetic rare diseases can be caused by unevenness and abnormalities in an individual’s chromosomes. These irregularities can result in various chronic disorders that can be very complicated and distressing for patients. Some of these disorders are even incurable right now. Comprehensive studies and research have been conducted to treat these atypical diseases.


The majority of the genetic rare diseases are attained before birth. Some of these rare inherited diseases could not be detected by birth screening since they will take time to develop. The signs for these diseases are basically invisible during those stages.


Rarest Genetic Diseases

Van der Woude syndrome is one of the rarest genetic disorders in the planet. This disorder can only affect one person in every 215,000 of the world’s total population. This medical condition is rare, but it does not choose ethnicity. These medical disorders are hereditary, but they can also be present in patients without any history of such conditions. This disorder includes facial and mouth deformities. Missing lower teeth, cleft palate and tongue deformations are some of the common signs of this disease.

The Cri du chat syndrome is one of the most puzzling and inexplicable genetic rare diseases ever discovered. The disorder is also known as cat cry syndrome and 5p-syndrome. This syndrome involves a missing genetic material on the five significant small arm of chromosome. The causes of such loss are unknown and unidentified. The severity symptoms of such disorder would vary depending on the number of missing genetic material. The symptoms of this syndrome include widely spaced eyes, delayed mental development and high-pitched crying. The treatment involves therapies from mental health experts, parents and therapists.

Another type of these rare disorders is the Angelman syndrome. This medical condition also goes by various names such as puppet children and happy puppet syndrome. It is a disorder that causes mental retardation to its patients. It is labeled as puppet syndrome since patients with such disorder involve jerky and odd movements According to recent surveys, there is only one affected individual in every 15,000 to 21,000 individuals. Other symptoms include speech quandaries, small head size and delayed mental development.

Alkaptonuria or widely known as black urine disorder is caused by irregularities in the tyrosine metabolism of the human body. It only affects one in nearly 300,000 people in the planet. It is also one of the genetic rare diseases, and it involves accumulation of homogentistic acid or alkapton of the blood. This accumulation will be excreted in the patient’s urine. An individual affected by such disorder will have black colored urine when it is exposed in the air. Other symptoms include pigmented sclera and darkened skin.

Tuberous Sclerosis or also known as Bourneville’s disease is a disorder that only affects about one in every 10,000 individuals around the globe. Nearly 81 percent of these cases are caused by mutations of two genetics specifically TSC2 and TSC1. Common symptoms of such disorders include epileptic seizures, mental retardation, behavioral problems and lung diseases.

Tips and comments

Medical researchers from all the parts of the world are still searching for the best treatments and cure for those incurable genetic diseases. The treatments for these diseases may be available in the next few years. Research studies on gene therapy, enzyme replacement and cloning of genes are ongoing to resolve those incurable genetic rare diseases.