[ Browse by Service Category : Topics Related to Genetic Disorders (1) ]
Epidermolysis
A genetically transmitted condition that is characterized by formation of deep-seated blisters on the skin that are filled with fluid. The blisters appear following rubbing or irritation.
Hemophilia
A hereditary blood disease that affects males and is characterized by greatly prolonged coagulation time. The blood fails to clot and abnormal bleeding occurs. Hemophilia is a sex-linked hereditary trait which is transmitted by normal females who carry the recessive gene.
Huntington's Disease
An inherited disease of the central nervous system which usually has its onset in people age 25 to 55. The individual has progressive dementia with bizarre involuntary muscular twitching of the limbs or facial muscles. The posture is abnormal. The disease slowly progresses and death is usually due to an intercurrent infection.
Marfan Syndrome
An inherited condition of the connective tissues, bones, muscles, ligaments and skeletal structure whose symptoms include an irregular and unsteady gait and a tall, lean body type with long extremities including fingers and toes. There is abnormal joint flexibility, flat feet, stooped shoulders, dislocation of the optic lens, and a weakened aorta.
The above terms and definitions are part of the Taxonomy of Human Services, used here by permission of INFO LINE of Los Angeles.
