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Other Names :  

Trisomy 21, Downs syndrome

What is Down Syndrome ?  

Down’s syndrome is caused by the presence of all or part of extra copy of Chromosome 21. Typically presents with characteristic facial features, moderate intellectual disability, with an average IQ of 50 during the young adult years.

Cause(s) :  
  • Genetic Mutation
Symptoms :  
  • Phenotypic features

Facial features:
  • Mongoloid eyes/upslanting palpebral fissures
  • Snub nose
  • Short ears
  • Hypotonia
  • Small chin
  • Large tongue

Other characteristics:
  • Short /thick hands and feet
  • Delayed developmental milestones
  • Low muscle tone
  • Moderate intellectual disability
  • Low muscle tone
  • Umbilical hernia
  • Increased distance between first and second toes

Clinical features:
  • Hypothyroidsm
  • Dysplastic pelvis
  • Dementia/premature ageing
  • Poor reflux
  • Congenital heart defects

Biochemical features:
  • Ammonia / Uric acid accumulation
  • Thyroid dysfunction –hypothyroidism
  • Immune dysfunction
  • Poor lipid metabolism
  • Over expression of enzymes such as Super Oxide Dismutase
Diagnosis and Tests :  
  • Can be identified during pregnancy by prenatal screening and diagnostic testing.
  • Karyotyping (Genetic test)
  • Amniocentesis
  • Chorionic villi sampling
Category :  Congenital Conditions

Specialist to consult :  Paediatrics

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Roshkaur_2424 

Not very useful! :[:(:(:(:(:(

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