Rare Genetic Disorders

Genes are the basic unit of life and even the minutest abnormality in genes can have drastic effects on the body and general development. Genes determine every aspect of life, from how we grow to how we behave to how we react to others to even the diseases that we can be vulnerable to. As such, genes can be described as nothing, but a storehouse of information. Our genetic material is a complex entity that gives rise to the even more complex life. Because of the complexity of the gene pool, it is only natural that some defects may arise in the transition of mindboggling information that a single gene holds. This is why genetic factors, because of any defect in the genes, are responsible for a huge number of diseases and disorders, with some being quiet common and some extremely rare. The rare genetic disorders are classified as those that occur to one in more than ten to fifteen thousand people. Given below is a selection of a few rare genetic diseases.

Rare Genetic Diseases

Cri Du Chat
Children affected with this rare genetic disorder are said to have a characteristic cat-like cry. This disorder results from a missing part in chromosome number 5 and affects about 20,000 to 50,000 live births. Due to this syndrome, affected children experience difficulty in swallowing and sucking, excessive drooling, constipation, and poor growth among others.

De Grouchy Syndrome
This is a rare congenital disorder resulting from an abnormality in chromosome 18. The disorder has two forms - type 1 and type 2, classified on the nature of the genetic lesion. Typically, this disorder leads to short stature, mental retardation, foot deformities, hearing impairments and hypotonia. 

Louis–Bar Syndrome
Also known as Boder-Sedgwick syndrome, this disorder is caused due to a defect in the ATM gene and leads to severe disability, as it affects various parts of the body. This disorder is neurodegenerative and is inherited. The most common characteristics of this disorder are small dilated blood vessels, and poor coordination. In a majority of cases it affects the immune system leading to respiratory disorders and heightened risk of cancer.

Muenke Syndrome
This disorder leads to the premature closure of certain bones and skull during development. As a result, the shape of the face and head is affected. This rare condition affects about 1 in 30,000 births. Other noticeable symptoms are wide set eyes and flattened cheek bones. Some also suffer from enlarged head and hearing loss. This disorder is caused due to a single mutation in the FGFR3 gene.

Alkaptonuria
More commonly known as the black urine disorder in which a toxic tyrosine byproduct is accumulated in the blood which is then excreted in the urine. The main characteristic of this disorder is that urine and ear wax turns brown or black in contact with air. The high level of the tyrosine byproduct can damage the cartilage and heart valves and also leads to the formation of kidney stones.

Alexander Disease
This is an extremely rare disorder, which mostly affects infants and children. As a result, the patient suffers from developmental delay physical characteristic changes. The disorder progresses slowly and can also be quite fatal. Along with delay in behavioral, psychological and physical development it also causes seizures, spasticity and gradual enlargement of head. 

Did you know any of these rare genetic disorders? Well, we are sure that each of the disorder and its existence came as a surprise for you, but nonetheless, the fact that a few of us do face these abnormalities cannot be ignored.