Category: Genetic

Fragile X syndrome, also known as FXS, is a genetic condition that affects both males and females. It is estimated that approximately one in 3,600 to 4,000 males and one in 4,000 to 6,000 females are affected by this syndrome. FXS can lead to various levels of intellectual and behavioral challenges, as well as a...

Tay-Sachs disease is an uncommon condition characterized by the breakdown of neurons, particularly in the brain and spinal cord. This disorder falls under the category of lysosomal storage disorders, which involves a disruption in lysosomal enzymes crucial for normal cell function. Additionally, some specialists may use the term GM2 gangliosidosis to describe Tay-Sachs disease due...

Stickler syndrome is a relatively rare condition that affects approximately 1 in 7,500 individuals in the United States. This genetic disorder is characterized by mutations in specific genes, which give rise to a variety of symptoms including unique facial characteristics, as well as difficulties with hearing, vision, and joint function. Understanding the Causes of Stickler...

Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a genetic disorder characterized by the abnormal development of the bones and tissues in the face, head, and ears. This condition affects the formation of the cheekbones, eye sockets, and jaw during pregnancy, leading to a range of manifestations that can vary in severity. While some...

Sanfilippo syndrome, also referred to as Mucopolysaccharidosis III, is a rare genetic disorder characterized by a deficiency of specific enzymes in the body’s metabolism. This neurodegenerative condition encompasses various subtypes, each with its own distinct set of symptoms. The overall occurrence rate of all subtypes combined is estimated to be approximately one in every 70,000...