Genetic disorders

Question 1

What kind of defect is associated with Down’s syndrome?

Answer 1

endocardial cushion defect

Question 2

A child is born with epicanthal folds, brachycephaly, midface hypoplasia, excessive skin behind neck, palmar creases and a sandal gap. This is…

Answer 2

down’s syndrome

Question 3

A child is born with sloping forehand, cutis aplasia, polydactyly, micro-opthalmia, cleft palate. This is…

Answer 3

patau syndrome (trisomy 13)

Question 4

What are the recommendations for Down syndrome children in terms of sports?

Answer 4

avoid contact - need to confirm no atlantoaxial instability

Question 5

A child presents with micrognathia, microcephaly, prominent occiput, low set ears and rocker bottom feet. This is..

Answer 5

Edwards syndrome - trisomy 18

Question 6

A child presents with wide set eyes, priminent nose, small mandible, cleft palate and a holosystolic murmer with boot shaped heart. This is…

Answer 6

DiGeorge syndrome
Remember cATCH 22
(Cardiac, abnormal facies, thymus
Hypoplasia, cleft palate, hypocalcemia, 22)

Question 7

A child prsents with macroglossia, hemihyperplasia, and renal abnormalities. What is this and what should you eval for?

Answer 7

Beckwith-Wiedemann syndrome - check for embryonal tumors

Question 8

A child presents with distinctive features, a coctail type personality and supravalvular aortic stenosis. This is…

Answer 8

Williams syndrome

Question 9

What does CHARGE syndrome stand for?

Answer 9

coloboma, heart defects, choanal atresia, retardation of growth/development, genital abnormalities, ear abnormalities/deafness

Question 10

A newborn child presents with lymphadema. You should screen for?

Answer 10

turner’s syndrome - ECHO for coractation and renal US for horseshoe kidney

Question 11

A patient presents with short stature, shield chest, webbed neck, cardiomyopathy
And pulmonary valve stenosis. This
Is….

Answer 11

Noonan syndrome

Question 12

A patient presents with hyper extensible joints, paper thin scars and constipation. Think…

Answer 12

Ehlers danlos syndrome

Question 13

A baby presents with long philtrum, small palpebral fissures and mental retardation. Suspect…

Answer 13

fetal alcohol syndrome

Question 14

A child presents with large teeth, acne, prominent glabella as well as long face and fingers and an explosive temper. This is…

Answer 14

XYY syndrome

Question 15

A young thin 14 year old male presents with breast development, immaturity, long limbs, decreased upper segment ratio and small testes and Phillus. This is..

Answer 15

Klinefelter’s syndrome

Question 16

A child presents with a long narrow face, prominent forehead and chin, large ears and macrocephaly. This is..

Answer 16

Fragile X

Question 17

A patient presents with normal intellect, pectus deformity, upward dislocated lens tall stature and hyperelasticity. This is..

Answer 17

Marfan syndrome

Question 18

A patient presents with hepatomegaly, feeding difficulties and floppiness. This is..

Answer 18

Pompe’s disease

Question 19

A patient presents with short stature, frequent laughng hand flapping and ataxia. This is..

Answer 19

Angelman syndrme

Question 20

A patient presents with narrow forehead, down turned mouth, almond shaped eyes and small eyes as well as microphallus. This is..

Answer 20

Prader willi syndrome

Question 21

A patient presents with self mutilation, mental retardation and extrapyramidal symptoms. This is..

Answer 21

lesh nyan syndrome

Question 22

What are the cardiac defects associated with Turner’s syndrome?

Answer 22

bicuspid aortic valve, coarctation of the aorta

Question 23

A baby presents with seizures, intellectual disability, fair complexion and musty urine odor. This is..

Answer 23

PKU