Down Syndrome

Caused by three copies of chromosome 21 - also called trisomy 21

Clinical features

  • Hypotonia
  • Brachycephaly (small head with a flat back)
  • Short neck
  • Short stature
  • Distinctive facial features
    • Prominent tongue
    • Flattened face and nose
    • Prominent epicanthic folds
    • Brushfield spots

Complications

  • Develop at a different pace
  • Learning disability common
  • Recurrent otitis media
  • Deafness - eustachian tube abnormalities lead to glue ear and conductive hearing loss
  • Visual problems such myopia, strabismus and cataracts
  • Hypothyroidism occurs in 10-20%
  • Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot
  • GI issues - Hirschsprungs disease, duodenal atresia
  • Atlantoaxial instability
  • Predisposed to developing diabetes and coelic
  • Leukaemia is more common in children with Down’s
  • Dementia is more common in adults with Down’s

Medical screening in Down's syndrome

  • High risk of cardiac, visual and hearing defects
  • Much more prone to hypothyroidism - chech TFTs annually
  • Screening for sleep-related breathing disorders e.g. OSA
  • Specific growth charts and developmental milestones