Anatom3D
ENCZDE
Download

Down syndrome (trisomy 21)

Syndroma Down (trisomia 21) · Downův syndrom (trizomie 21)

What it is

An extra chromosome 21; the commonest chromosomal condition, ~1 in 700 births.

Symptoms & signs

  • Characteristic facial features
  • hypotonia
  • learning disability
  • congenital heart defects
  • hearing and thyroid problems
  • early Alzheimer's risk

🚩 Get help if…

  • call 112 / 911 now Baby blue, breathing fast or sweating while feeding
  • call 112 / 911 now Green vomiting or a swollen belly in a newborn
  • see a doctor soon Neck pain, clumsy walking or loss of bladder control
  • see a doctor soon Loss of skills, memory or daily abilities in an adult

Where it strikes

Medical treatment

  • Cardiac surgery where needed
  • thyroid and hearing screening
  • early intervention therapies
  • educational support
  • specialist health checks

Natural & lifestyle

  • Early physiotherapy, speech and occupational therapy
  • education with individual support
  • exercise and weight management
  • screening schedule adherence

Emerging & experimental

  • Anti-amyloid prevention trials
  • targeted cognitive therapies
  • chromosome silencing research

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Green tea extract (EGCG) with cognitive training — a trial improved some memory tests early / small studies
  • Megavitamin 'targeted nutrition' regimens — trials found no benefit not confirmed in trials
  • Piracetam — a trial found no benefit not confirmed in trials

ICD codes