Genetic Disorders Articles

Niemann-Pick type A is a genetic neurological disease that affects infants. This serious disease causes nerve issues and is responsible for early death.

Radiological findings of Niemann-Pick disease vary by subtype. Imaging shows hepatosplenomegaly, pulmonary infiltrates, and neurological changes in the brain.

Niemann-Pick type B is a rare genetic condition caused by a lack of acid sphingomyelinase. Fat accumulates in the liver, spleen, and lungs but spares the brain.

Niemann-Pick disease is a rare genetic disorder. It causes harmful buildup of fats (lipids) inside the body’s cells.

Niemann-Pick disease type C is an ultra-rare genetic disorder. It makes it hard for the body's cells to move and use fats, such as cholesterol, in the right way.

Wiedemann-Steiner syndrome is a rare genetic disorder affecting growth, development, learning ability, and physical features due to mutations in the KMT2A gene.

Klinefelter syndrome, also called XXY syndrome, happens when a boy is born with one extra X chromosome.

Sotos syndrome is a rare condition characterized by children growing faster and taller than their peers of the same age. Read the article to know more about it.

What is NF1, and how does it affect life? This genetic condition impacts skin, nerves, and eyes, but early care and support improve outcomes.

Neurofibromatosis type 1 (NF1) is a genetic condition affecting many body parts. Tumors grow on nerves and cause many health problems.