Down syndrome

Question 1

What causes Down’s syndrome?

Answer 1

Trisomy 21

Question 2

What is the major risk factor for Down’s syndrome?

Answer 2

Increasing maternal age

Question 3

Name 5 things on appearance of Down’s syndrome

Answer 3

Flat occiput
Flattened facial appearance
Upslanting palpebral fissures
Epicanthal folds
Brushfield spots (spots in irises)
Small nose, mouth, ears
Short fingers (brachiodactyly) and clinodactyly
Flat, dysplastic nasal bone

Question 4

Name 5 complications of Down’s syndrome

Answer 4

Basically can name anything…

Congenital cardiac malformations
Pulmonary HT
GORD
Refractive errors, congenital cataracts
Recurrent ear infections
OSA
Sinusitis
Thyroid disease, T1DM
Increased risk of leukaemia 
Immunocompromise
Orthopedics - atlantoaxial instability (= cervical spine subluxation)
Behavioural and psychiatric complications