Category: Genetic

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a genetic disorder that puts individuals at a higher risk of developing specific types of cancer, particularly colorectal cancer. According to the National Institutes of Health, Lynch syndrome is responsible for approximately three to five percent of the 140,000 cases of colorectal cancer diagnosed...

Edwards syndrome, also known as Trisomy 18, is a genetic disorder resulting from a chromosomal abnormality. With an incidence rate of approximately 1 in 5,000 births, this condition significantly hampers both the growth and development of affected individuals. Unfortunately, there is currently no cure for Edwards syndrome, making its prognosis often devastating. Understanding Trisomy 18...

Aarskog syndrome, also known as Aarskog-Scott syndrome, is a relatively rare genetic disorder caused by a mutation in the X chromosome. While this condition primarily affects males, females can also be affected, albeit with milder symptoms. Aarskog syndrome impacts various aspects of a child’s development, including their facial structure, muscles and bones, genitals, brain, and...

Lesch-Nyhan syndrome (LNS) is a rare congenital metabolic disorder that was first identified in 1964 by Dr. William Nyhan and his medical student, Michael Lesch. Their groundbreaking research began when they noticed that a patient diagnosed with cerebral palsy exhibited additional symptoms that did not align with the initial diagnosis. This led to the discovery...

Niemann-Pick disease is a genetic metabolic disorder that manifests as a rare, multi-systemic condition. It is caused by an inherited genetic mutation that hinders the body’s ability to metabolize lipids. Consequently, this leads to the degeneration and damage of various organs, ultimately resulting in fatality. The severity, symptoms, and prognosis of Niemann-Pick disease are contingent...

Cornelia de Lange syndrome is a genetic mutation that leads to a developmental disorder. This condition is characterized by distinct signs and symptoms, which are typically more noticeable in severe cases. However, milder forms of the syndrome often go undiagnosed. Cornelia de Lange syndrome can impact various aspects of an individual’s health, including their physical...

Friedreich Ataxia (FA) is a hereditary condition that adversely affects the nervous system, leading to issues with movement and muscle coordination, also known as ataxia. This disease was named after the German scientist who first identified it. The rate at which FA progresses can vary from person to person. Typically, individuals with FA will require...

Cystic Fibrosis, a hereditary disorder primarily impacting the respiratory system, is a chronic illness characterized by excessive production of mucus. The symptoms associated with this condition can vary greatly and tend to evolve over time. Although cystic fibrosis is now identified in infants through specialized screening tests, early detection is not always possible. Individuals afflicted...

Alport syndrome is a hereditary condition that predominantly affects the kidneys, ears, and eyes due to genetic mutations. While there is currently no cure for Alport syndrome, individuals can still lead fulfilling lives with proper medical care. Treatment primarily revolves around alleviating symptoms, addressing complications, and mitigating the progression of the disease within the body....

In 1954, a tragic event unfolded when four infants belonging to the same family passed away within their first 90 days of life. Medical professionals investigating the cause of death identified a neurodegenerative disorder as the culprit. Interestingly, all four babies exhibited a peculiar symptom – their urine emitted an odor reminiscent of burnt sugar....