Congenital Syndrome DRB

Question 1

Name congenital syndrome

Increase dementia risk after 45yo
ASD in 10%
ADHD in25%

Answer 1

Down syndrome

Question 2

Explain mecanism behind the extra chromosome content in trisomy 21

Answer 2

• 95% nondisjunction
• translocation
• mosaicism

Question 3

Most common cause of intellectual deficiency

Answer 3

Down syndrome

Question 4

Most common cause of inherited ID

Answer 4

Fragile X

Question 5

Features of Down syndrome

Answer 5

Epicanthal folds
Flat nasal bridge
Single palmar crease
Small ears and mouth
Upward slanted palpebral fissures
Excessive skin at nape of neck

Question 6

Name syndrome associated with these comorbidities:

• 75% hearing loss and > 50% otitis
• mitral valve prolapse, strabismus and joint laxity
• hypoganadism, scoliosis, cryptorchidism, obesity
• 90% epilepsy

Answer 6

• Down syndrome
• Fragile X
• Prader-Willi
• Angelman

Question 7

Name of congenital disorder:

Prominent forehead, macroorchidism, mod to sever ID in males and mild ID in females, learning disorder, ADHD 80%, OCD

Answer 7

Fragile X

Question 8

Most common genetic cause of obesity

Answer 8

Prader-willi

Question 9

Obesity, small hands, microorchidism, hoarding, skin picking, behavior issues

Answer 9

Prader-willi

Question 10

Which are the congenital syndrome associated with the following:

• severe and profound ID
• moderate to severe ID
• mild-moderate ID

Answer 10

Severe - profound ID: Angelman, Cornelia de Lange

Severe: cri du chat

Mod to severe: Down, Fragile X, smith-Magenis, Hurler

Mild-moderate: Williams, Lesch-Nyhan

Mild: 60% of Prader-Willi, 1/3 of neurofibro

Not an important cause of ID: DiGeorge, Turner

From mild to profound: PKU, tuberous sclerosis

Question 11

Dominant transmission, fair hair and blue eyes, ataxic gait, 90% epilepsy, ASD 42%

Answer 11

Angelman

Question 12

UNI eyebrows
Hairy
Failure to thrive
Self-injury

Answer 12

Cornelia de Lange

Question 13

Dominant transmission, elfin-like face, renal/heart/thyroid problems, hypercalcemia, hyperactive and fearful

Answer 13

Williams

Question 14

Dominant transmission, IUGR, congenital heart disease, GI anonalies, resp/ear infections, self-injuries and hyperactivity,
laryngeal abnormality = origin of the syndrome’s name

Answer 14

Cri du chat

Question 15

Hoarse deep voice, square face, hyperactivity, severe self-injury

Answer 15

Smith-Magenis

Question 16

X-linked recessive, accumulation of uric acid, severe self-biting

Answer 16

Lesch-Nyhan

Question 17

Deletion of cyclic adenosine monophosphate response element-binding protein gene, broad thumbs, prominent nose, poor concentration, language delay, happy and sociable but tantrums

Answer 17

Rubinstein-Taybi

Question 18

Defect in phenylanine hydroxylase, recessive

Fair skin and blue eyes, sx absent when born

Answer 18

PKU

Question 19

Dominant, most common neurocutaneus syndrome, cafe au lait spots, neurofibromas, optic gliomas, acoustic neuromas, lisch nodules, adhd, mood problems

Answer 19

Neurofibromatose

Question 20

Mutation in TSC 1 ou 2, dominant, 2nd most common neucocutaneus syndrome, hamartomas, from normal to profound ID, autism 25-50%

Answer 20

Tuberous sclerosis

Question 21

X linked dominant, only female, deterioration starting between 6m-1y

Answer 21

Rhett’s

Question 22

45XO monosomy, webbed neck, cubitus valgus, gonadal dysgenesis

Answer 22

Turner

Question 23

CATCH 22: cardiac, T-cells deficits, clefting, hypoCa

SCZ 25%, ADHD, learning disorders

Answer 23

DiGeorge

Question 24

1/3 growth impairment
3/3 facial features: short palpebral fissures, smooth filtrum, thin upper lio
3 neurocognitive features
Exposure to
EtOH

Answer 24

FAS