Down syndrome Flashcards
1
Q
What causes Down’s syndrome?
A
Trisomy 21
2
Q
What is the major risk factor for Down’s syndrome?
A
Increasing maternal age
3
Q
Name 5 things on appearance of Down’s syndrome
A
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
4
Q
Name 5 complications of Down’s syndrome
A
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
