Down's syndrome

Question 1

What is genetic mutation in Down’s syndrome?

Answer 1

Trisomy 21

Question 2

10 features of Down’s syndrome

Answer 2

Bradycephaly
Palpable oblique fissures
Epicanthal folds
Brushfield spots
Almond-shaped eyes
Flat nasal bridge
High arched palate
Short neck
Single palmar crease
Short little finger
Syndactyly - webbed toes
Sandal gap

Question 3

10 complications?

Answer 3

Cardio - Fallot’s tetraology, isolated patent ductus arteriosus
ENT - sensorineural hearing loss, obsructive sleep apnea (due to protruding tongue), predisposition to otitis media
Ophthalmic - nystagmus
GI - duodenal atresia, oesophageal atresia, coeliac disease, imperforate anus, Hirchsprung’s Disease
Orthopaedic - atlanto-axial instability
Neurological - early onset Alzheimer’s disease, learning difficulties
Respi - increase risk of pneumonia (increased susceptbility to infection)
Haem - increased ALL, AML, polycythaemia