Modern Biology Flashcards - Genetic Diseases
Person born with male chromosomes (XY) but has female traits like genitalia.
Swyer’s Syndrome
Commonly known as the Human Mannequin Syndrome
FOP (Fibrodysplasia ossificans progressiva)
A disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that limits movement.
FOP (Fibrodysplasia ossificans progressiva)
hypertrichosis also known as Ambras Syndrome
Werewolf syndrome
involves excessive hair grows all over a person’s body
Werewolf syndrome
a syndrome that involves a constant sense of hunger that usually begins at about 2 years of age.
prader-willi syndrome
a neurodegenerative disorder primarily affecting movement.
parkinson’s disease
a condition involving muscle weakness and paralysis at night, recovering fully by morning.
Dopaminergic Nocturnal Paralysis
It is a 13 genetic connective-tissue disorder and involves overly flexible joints and stretchy, fragile skin.
Ehlers-Danlos syndrome
a rare genetic lysosomal storage disorder, where you don’t have enough of a certain enzyme that breaks down fats.
Fabry Disease
Abnormal amount fluid is trapped between the skull and brain
Hydrocephalus
A condition that involves pancreatic insufficiency, pancreas and bone marrow malfunction, often result malabsorption of nutrients
Shwachman-Diamond Syndrome
It affects multiple parts of the body, mainly the pancreas and bone marrow which leads to malabsorption and poor growth.
Shwachman-Diamond Syndrome
