Syndrome list

Question 1

Achondroplasia

Answer 1

AD, dwarfism

Question 2

Phenylketonuria

Answer 2

AR, Inability to metabolise phenylalanine, intellectual disability if in diet.

Question 3

Marfan syndrome

Answer 3

AD, Tall, long fingers, fibrillin defect so aortic instability, sudden death

Question 4

Huntingtons disease

Answer 4

AD, caused by expansion of CAG (glutamine) (>35 repeats pathological) dementia, depression and decline in movements

Question 5

Tay Sachs disease

Answer 5

AR, common in jewish population, neurodeterioration and death starting age 4-5

Question 6

Cystic fibrosis

Answer 6

AR, common in caucasians, lung, pancreas, fertility problems

Question 7

Albinism

Answer 7

AR (mostly), No pigment of hair and eyes, susceptible to skin cancer

Question 8

Sickle cell anaemia

Answer 8

AR, Sickling of red cells, poor oxygen carriage, painful crises, stroke

Question 9

Haemophilia

Answer 9

X-LR lack of factor VIII poor clotting and joint pains

Question 10

Colour blindness

Answer 10

X-LR colour blindness

Question 11

Duchenne muscular dystrophy

Answer 11

X-LR progressive loss of muscle power. Respiratory failure and death by 20s

Question 12

Rett syndrome

Answer 12

XLD Intellectual disability in girls, regression after age 1-2

Question 13

Hypophosphataemic rickets

Answer 13

X-LD functional calcium deficiency, joint swelling, bone deformity

Question 14

MERRF

Answer 14

Mitochondrial encephalopathy with ragged red fibres, intellectual disability

Question 15

MELAS

Answer 15

Mitochondrial encephalopathy with lactic acidosis and stroke, intellectual disability

Question 16

Prader-Willi syndrome

Answer 16

UPD, failure of paternal SNRPN gene, floppy babies that fail to thrive, extreme obesity, intellectual disability

Question 17

Angelman syndrome

Answer 17

UDP, severe intellectual disability, happy puppet

Question 18

Fragile X

Answer 18

X-LR (expansion) intellectual disability in boys, large head, nose, ears, testicles, ovarian failure in females

Question 19

Thanatophoric dysplasia

Answer 19

AD lethal form of dwarfism with skull abnormalities

Question 20

Turner syndrome

Answer 20

XO (chromosome) female, short, no puberty, webbed neck, shield chest, wide carrying angle, normal intelligence

Question 21

Kleinfelter syndrome

Answer 21

XXY (chromosome) male, tall, small gonads, breasts, infertile, slight intellectual disability

Question 22

Triple X

Answer 22

XXX female, tall, mild intellectual disability

Question 23

XYY

Answer 23

Male, aggressive, criminal tendencies

Question 24

Down syndrome

Answer 24

Non-disjunction (trisomy 21), or robertsonian translocation. Characteristic face, upslanting eyes, apparent large tongue, wide sandle gap, single palmar crease, heart defects, alzheimers, intellectual disabilities

Question 25

Edwards syndrome

Answer 25

Trisomy 18, severe intellectual disability, heart defects, overlapping fingers, rocker bottom feet, unlikely to survive 1st year

Question 26

Patau syndrome

Answer 26

Trisomy 13, severe intellectual disability, clefting, cyclopia,unlikely to survive 1st year

Question 27

DiGeorge syndrome

Answer 27

22q11 deletion, mild intellectual disability, cleft palate, immunodeficiency, schizophrenia in adults

Question 28

WAGR

Answer 28

11p13 deletion Wilms-tumour-aniridia-genital-abnormalities-retardation

Question 29

Williams syndrome

Answer 29

7q11 deletion mild intellectual disability, cocktail party chatter, hypercalcaemia, heart defects