Down's Syndrome

Question 1

How does Down’s present?

Answer 1

Usually found on prenatal screening

- Vomiting due to duodenal webbing or atresia
- Meconium ileus due to Hirshsprung
- Development delay
- Vision/Hearing difficulty 
- Respiratory infections
- Fainting, arrhythmias , palpitations, chest pain due to cardiac lesions - ASD, VSD, etc 
- Learning, language, school difficulties 
- Motor difficulties Sleep apnoea

Question 2

What are some exam findings in Down’s syndrome?

Answer 2

• Flat occiput and facial features
  
  • Bradycephaly
  • Epicanthal folds
  • Flat nasal bridge
  • Upward slanting palpebral fissures
  • Brushfield spots
  • Small nose and mouth
  • Protruding tongue
  • Small and dysplastic ears
  • Generous nuchal skin
  • Diastasis recti
  • Shortened extremities
  • Joint hyperflexibility
  • Dry skin
  • Premature ageing

Question 3

What are some conditions associated with Down’s syndrome?

Answer 3

• Congenital heart lesions
  
  • Hearing loss
  • Vision problems
  • Infections
  • Hypothyroidism
  • Blood disorders
  • Hypotonia
  • Cervical spine abnormality, particularly atlanto-axial joints
  • Dental
  • Duodenal atresia, Hirshsprung disease
  • Coeliacs
    Mental health disorders