Genetic disorders Flashcards
genetic disorder
also known as hereditary disorder
Cystic fibrosis (CF)
a genetic disorder that is present at birth and affects both the respiratory and digestive systems
Down syndrome (DS)
a genetic variation that is associated with a characteristic facial appearance, learning disabilities, developmental delays, and physical abnormalities such as heart valve disease
Hemophilia
blood-clotting factor is missing. Spontaneous hemorrhages or severe bleeding after the injury
Huntington’s disease
nerve degeneration with symptoms that most often appear in midlife. Uncontrolled movements and the loss of some mental abilities.
Muscular dystrophy
progressive weakness and degeneration of the skeletal muscles that control movement
Phenylketonuria (PKU)
disorder in which essential digestive enzyme phenylalanine hydroxylase is missing (formerly referred to as a mental retardation)