Genetic Disorders

Question 1

Give 4 characteristics of Patau’s

Answer 1

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Question 2

Give 4 characteristics of Edward’s

Answer 2

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

Question 3

Give 6 characteristic’s of Fragile X

Answer 3

learning difficulties
large low set ears, long thin face, high arched palate
macroorchidism
hypotonia
autism is more common
mitral valve prolapse

Question 4

Give 4 characteristics of Noonan syndrome

Answer 4

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 5

Give 4 characteristics of Pierre-Robin sydrome

Answer 5

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

Question 6

Give 3 characteristics of Prader-Willi syndrome

Answer 6

Hypotonia
Hypogonadism
Obesity

Question 7

Give 5 features of William’s syndrome

Answer 7

Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis

Question 8

What is Kartagener’s syndrome

Answer 8

Heart on wrong side

Question 9

What are the characteristics of Turner’s syndrome

Answer 9

short stature
shield chest, widely spaced nipples
webbed neck
bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
primary amenorrhoea
cystic hygroma (often diagnosed prenatally)
high-arched palate
short fourth metacarpal
multiple pigmented naevi
lymphoedema in neonates (especially feet)
Horse-shoe kidneys