Inherited Conditions

Question 1

Hereditary spherocytosis

Answer 1

Autosomal dominant

Question 2

Noonan syndrome

Answer 2

Autosomal dominant

Question 3

Hereditary non-polyposis colorectal carcinoma

Answer 3

Autosomal dominant

Question 4

Cystic fibrosis

Answer 4

Autosomal recessive

Question 5

Myotonic dystrophy

Answer 5

Autosomal dominant

Question 6

Hyperlipidaemia type 2

Answer 6

Autosomal dominant

Question 7

Acute intermittent porphyria

Answer 7

Autosomal dominant

Question 8

Glycogen storage disease

Answer 8

Autosomal recessive

Question 9

Thalassaemias

Answer 9

Autosomal recessive

Question 10

Gilbert’s syndrome

Answer 10

Autosomal recessive

Question 11

Haemochromatosis

Answer 11

Autosomal recessive

Question 12

Tuberose sclerosis

Answer 12

Autosomal dominant

Question 13

Adult polycystic disease

Answer 13

Autosomal dominant

Question 14

Von Hippel-Lindau syndrome

Answer 14

Autosomal dominant

Question 15

Lipid storage disease: Tay-Sach’s, Gaucher, Niemann-Pick

Question 16

Antitrhombin III deficiency

Answer 16

Autosomal dominant

Question 17

Von Willebrand disease (Type 1)

Answer 17

Autosomal dominant

Around 80% of Von Willebrand Disease is type 1

Question 18

Osteogenesis imperfecta

Answer 18

Autosomal dominant

Question 19

Sickle cell anaemia

Answer 19

Autosomal recessive

Question 20

Cystinuria

Answer 20

Autosomal recessive

Question 21

Ataxia telangiectasia

Answer 21

Autosomal recessive

Question 22

Familial adenomatous polyposis

Answer 22

Autosomal dominant

Question 23

Achondroplasia

Answer 23

Autosomal dominant

Question 24

Neurofibromatosis

Answer 24

Autosomal dominant

Question 25

Hereditary haemorrhagic telangiectasia

Answer 25

Autosomal dominant

Question 26

Huntington’s disease

Answer 26

Autosomal dominant

Question 27

Familial Mediterranean Fever

Answer 27

Autosomal recessive

Question 28

Homocystinuria

Answer 28

Autosomal recessive

Question 29

Albinism

Answer 29

Autosomal recessive

Question 30

Fanconi anaemia

Answer 30

Autosomal recessive

Question 31

Congenital adrenal hyperplasia

Answer 31

Autosomal recessive

Question 32

Peutz-Jeghers syndrome (Hereditary intestinal polyposis syndrome)

Answer 32

Autosomal dominant

Question 33

Retinoblastoma

Answer 33

Autosomal dominant

Question 34

Autosomal dominant conditions are mostly [1] whilst autosomal recessive conditions are mostly [2]

Answer 34

1. Structural
2. Metabolic

Question 35

Ehlers-Danlos syndrome

Answer 35

Autosomal dominant

Question 36

Friedreich’s ataxia

Answer 36

Autosomal recessive

Question 37

Wilson’s disease

Answer 37

Autosomal recessive

Question 38

Marfan’s syndrome

Answer 38

Autosomal dominant