Down syndrome

Question 1

Features

Answer 1

Prevalence 1/650 live births

Down syndrome (trisomy 21):

1. typical facial features

• flat facies
• slanting eyes
• epicanthic folds
• small ears

2. hypotonia
3. single palmar crease

Question 2

Associated disorders

Answer 2

Seizures (usually later onset)

Impaired hearing

Leukaemia

Hypothyroidism

Congenital anomalies e.g.

• heart
• duodenal tresia
• Hirschsprung’s
• TOF

Alzheimer-like dementia (4th–5th decade)

Question 3

Management

Answer 3

Assess child’s capabilities

Refer to agencies for assessment e.g.

• hearing
• vision
• developmental disability unit

Advise on sexuality, esp. for females (i.e. menstrual management, contraception) as fertility must be presumed