Cells - The Foundation of Life (Genetic Disorders)

Cystic fibrosis (CF)

Causes the buildup of a thick mucus in the lungs, pancreas, liver, kidney, and intestines.

Down Syndrome

Extra chromosome in chromosome 21. Internal organs are malformed, and IQ is typically well below normal.

Fragile X syndrome (Martin Bell syndrome)

May lead to a mild to moderate intellectual disability. Considered the most common cause for autism. Normally more severe in boys than girls. Patients have long faces, large prominent ears, flat feet, a low muscle tone, and hypermobile joints.

Klinefelter syndrome

Occurs only in men. Have an additional X chromosome. Usually not diagnosed until puberty when the secondary ale sex characteristics don’t develop, but breasts grow instead.

Turner Syndrome

Occurs only in women. They have only 1 X chromosome. They don’t develop female sex characteristics, but they menstruate normally.

Hemophilia

A group of genetic bleeding disorders due to a diminished blood clotting ability.

Phenylketonuria (PKU)

A genetic disorder leading to lack of an important enzyme. Without early detection and dietary treatment, children can suffer irreparable brain damage.

Muscular Dystrophy (MD)

A group of genetic disorders that lead to progressive weakness and degeneration of skeletal muscles.