10 - Genetic Diseases - Organ Systems with Defects

Question 1

long bones (limb elongation), thin body; defects of heart (floppy valves), aorta, eye (lens dislocation); joint hyper mobility; highly arched roof of the mouth and crowded teeth

Answer 1

Marfan Syndrome

Question 2

Cardiac outflow tract, Abnormal facies, T Cell, Cleft Palate, Hypocalcemia

Answer 2

DiGeorge Syndrome (CATCH22)

Question 3

Stretchable fragile skin, flexible joints, weak membranes

Answer 3

Ehlers-Dalos Syndrome

Question 4

non-elastic skin, multiple bone fractures, dentogenesis imperfecta

Answer 4

Osteogenesis Imperfecta

Question 5

High blood LDL, atherosclerosis, coronary a. disease, cholesterol deposits in skin (xanthomas)

Answer 5

Familial Hypercholerolemia

Question 6

Fibromatous skin tumors, brown spots (cafe-au-alit spots)

Answer 6

Neurofibromatosis

Question 7

Mild tooth agenesis

Answer 7

Molar Oligodontia

Question 8

Emphysema-lung disease (adults), apoptosis of liver cells-liver disease (adults, children)

Answer 8

Alpha-1 Antitrypsin Deficiency

Question 9

Skeletal (childhood) and cardiac (teens) muscle weakness due to muscle cell death

Answer 9

Duchenne Muscular Dystrophy

Question 10

Teeth unusually small, discolored, pitted, worn down; Hypoplastic (small), Hypomaturation (hypocalcified)

Answer 10

Amelogenesis Imperfecta

Question 11

Defect in Exocrine glands; chronic pulmonary infections; pancreatic, sweat gland insufficiency; decreased inflammatory responses

Answer 11

Cystic Fibrosis

Question 12

Flat facial profile, mental retardation, cardiac malformations

Answer 12

Down Syndrome