MSRA: Syndromes

Question 1

What are the features of Pierre Robin syndrome?

Answer 1

Small chin and jaw
Cleft palate
Posterior displacement of tongue

Question 2

What are the features of Noonan syndrome?

Answer 2

Webbed neck
Short stature
Pulmonary stenosis
Pectus excavatum

Question 3

What are the features of William’s syndrome?

Answer 3

Friendly, extroverted
Short stature
Learning difficulties
supraclavicular aortic stenosis

Question 4

What are the features of Prader-Willi syndrome?

Answer 4

Hypogonadism
Obesity

Question 5

What are the features of Fragile X syndrome?

Answer 5

Macro-orchidism
Learning difficulties
Macrocephaly
Long face
Large ears

Question 6

What are the features of Patau syndrome?

Answer 6

Cleft Palate
Polydactyly
Micrognathia
Angry scalp lesions
Small eyes

Question 7

What are the features of Edwards syndrome?

Answer 7

Low eyes
Micrognathia
Rocker bottom feet
Overlapping fingers

Question 8

What is the relationship between risk of Down’s syndrome and maternal age?

Answer 8

30 -> 1 in 900
35 -> 1 in 300
40 -> 1 in 100

Question 9

What are the physical features in Down’s syndrome?

Answer 9

Flat facial profile
Up-slanting palpebral fissures
Wide set eyes
Single palmar creases
Low set ears
Epicanthic folds
Small mouth
Protruding tongue
Brushfield spots in iris

Question 10

What are the associated conditions/complications in Down’s syndrome?

Answer 10

50% have congenital heart disease – AV septal defect = most common
Duodenal Atresia + Hirschsprung’s Disease
Hypothyroidism
Global Developmental Delay
Coeliac Disease
Conductive Hearing Loss
Increased risk of acute leukaemia
Dementia/Alzheimer’s Disease

Question 11

What are the features of Turner’s syndrome?

Answer 11

Short stature
Webbed neck
Wide spaced nipples
Heart defects: bicuspid aortic valve, coarctation of aorta
Cystic hygroma