Clinical concern for disease

Question 1

Turner Syndrome

Answer 1

46 XY/45 X mosaics will have cryptorchidism; given high risk of cancer, any reproductive material in the body needs to be removed

Question 2

Kleinfelter Syndrome

Answer 2

Very high rate of infertility

Question 3

Down Syndrome

Answer 3

• 50% of cases have some kind of heart defect, usually ASD
• 12% have intestinal atresia
• Moderate Intellectual defects

Question 4

Edwards Syndrome

Answer 4

High rate of cardiac defects
Significant concern for aspiration
Poor prognosis, usually fatal early in life
Significant intellectual defects

Question 5

Patau Syndrome

Answer 5

High rate of cardiac defects
Significant concern for aspiration
Poor prognosis, usually fatal early in life
Significant intellectual defects

Question 6

Wolf-Hirschorn

Answer 6

Significant mental delays

Poor growth rate

Question 7

Cri-du-chat

Answer 7

Profound intellectual disability

Poor growth rate

Question 8

Velo-cardial-facial syndrome

Answer 8

Common psychiatric problems
Cardiac manifestations (esp tetralogy of Falllot)
Tendency to have low blood calcium

Question 9

William Syndrome

Answer 9

Tendency to have high blood calcium

Mild intellectual disability

Question 10

Marfan syndrome

Answer 10

HIGH risk of aortic dissection and sudden death

Question 11

Neurofibromatosis Type I

Answer 11

May have ADHD/Learning deficits

Higher risk of developing other cancers

Question 12

Tuberous Sclerosis

Answer 12

High risk of seizures due to cortical tubers

Renal cysts common

Question 13

Achondroplasia

Answer 13

NONE :)

Question 14

Huntington’s chorea

Answer 14

Neurodegeneration inevitable. Disease is 100% penetrant

Question 15

Hemochromatosis

Answer 15

High iron levels lead to cardiac failure and cirrhosis

Question 16

alpha thalassemia

Answer 16

Anemia

Question 17

Hydrops fetalis

Answer 17

Universally fatal

Question 18

Fanconi’s anemia

Answer 18

Aside from functional problems, leukemia common in this disease; may have CNS manifestations

Question 19

Cystic fibrosis

Answer 19

Bronchiectasis, failure to clear mucus and increasing obstructive and restrictive lung disease; weight gain; recurrent and resistant lung infections

Question 20

Vitamin D resistant Rickets

Answer 20

Skeletal malformations, low blood phosphate

Question 21

Inconscientia Pigmenti

Answer 21

May have CNS deficits

Question 22

Retts syndrome

Answer 22

Progressive failure to reach anticipated childhood developmental milestones

Question 23

G6PD Deficiency

Answer 23

Haemolytic anemia

Question 24

OTC Deficiency

Answer 24

Hyperammonemia; female carriers can have protein load intolerance

Question 25

Duchenne Muscular Dystrophy

Answer 25

Progressive loss of skeletal and cardiac muscle integrity, loss of ambulation and daily functioning, eventually requires respirators

Question 26

Prader-Willi Syndrome

Answer 26

Profound obesity after 2 years of age
Failure to thrive beforehand
Mild intellectual disability

Question 27

Angelman Syndrome

Answer 27

Profound intellectual disability

Question 28

Myotonic Dystrophy

Answer 28

Often has comorbidities such as DM or cataracts

Question 29

Leber Hereditary Optic Neuropathy

Answer 29

Blindness inevitable, but can be delayed if patient avoids smoking and alcohol

Question 30

MELAS

Answer 30

Nondescript problems-may have seizures, failure to thrive