Category: Genetic

Familial adenomatous polyposis (FAP) is a hereditary condition characterized by the development of colorectal cancer. Individuals with this genetic mutation experience the growth of numerous non-cancerous polyps in the colon and rectum, which eventually have the potential to become cancerous. While FAP cannot be completely cured, the risk of colorectal cancer can be minimized through...

Kostmann syndrome, a type of congenital neutropenia, is a well-known condition characterized by an insufficient number of neutrophils in the body. This deficiency in a specific type of white blood cells puts infants at a higher risk of bacterial infections during the early weeks of their lives. As they grow, they may also develop developmental...

Chimerism is a fascinating biological phenomenon that occurs when an organism develops from at least four parent cells, in contrast to the usual development from a single zygote. This extraordinary occurrence can manifest through diverse mechanisms, such as the fusion of two embryos or the combination of two fertilized eggs. While the precise implications of...

DiGeorge syndrome is a genetic disorder caused by a chromosomal abnormality. This condition is characterized by a wide range of symptoms and presentations, which have led to various names being used in the past, such as Shprintzen syndrome, Velocardiofacial syndrome, and CATCH 22 syndrome. The impact of DiGeorge syndrome can vary greatly from one child...

Chiari malformation is a medical condition that can be either genetic or acquired. It occurs when there is a structural abnormality in the base of the skull and the cerebellum, resulting in the cerebellum protruding into the upper spinal canal. This condition affects approximately one in 1,000 individuals, although many cases are asymptomatic. Understanding the...

Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is an uncommon hereditary disorder that affects the function of all organs in the body. Primarily found in males, this condition has historically been classified into two categories: severe and mild. However, medical professionals now perceive Hunter syndrome as a continuum, encompassing a diverse array...

Triple X syndrome, also known as Trisomy X, is a genetic condition that exclusively affects females. In order to comprehend this syndrome, it is essential to have a basic understanding of genetics, particularly sex chromosomes. Typically, females possess two X chromosomes, while males have one X and one Y chromosome. However, in the case of...

Stromme syndrome, an exceptionally rare genetic disorder, remains a topic of ongoing research and exploration. While its prevalence remains uncertain, experts estimate that it impacts fewer than one in a million births. The identification of this condition dates back to 1993, but it was not officially named Stromme syndrome until 2007. Throughout the years, scientists...

CMT disease, also known as Charcot-Marie-Tooth disease, is a genetic disorder that primarily impacts the peripheral nervous system. The peripheral nerves extend from the brain and spinal cord, reaching every part of the body. Consequently, individuals with CMT disease may experience a diverse range of symptoms and complications. Understanding Genetic Defects and Their Impact on...

Tuberous sclerosis, an inherited condition predominantly identified during childhood or infancy, exerts its impact on various physiological systems. The manifestation and course of this disorder differ significantly across cases, thereby introducing considerable uncertainty in terms of prognosis and management. Tuberous sclerosis, although relatively uncommon, afflicts approximately one in 6,000 to 10,000 individuals. Understanding Genetic Mutations...