What is Down syndrome

What is Down syndrome? 

Down syndrome is a chromosomal anomaly with trisomy 21 characterized by

  • marked infantile hypotonia with hyperflexibility of joints,
  • cognitive impairment, brachycephaly with flat occiput,
  • up-slanting palpebral fissures,
  • late closure of fontanelles,
  • flattened nasal bridge,
  • epicanthal folds,
  • speckling of iris (Brushfield’s spots),
  • fine lens opacities,
  • small ears,
  • hypoplastic teeth,
  • short neck,
  • brachydactyly with clinodactyly of fifth fingers,
  • simian creases,
  • wide space between first and second toes,
  • congenital heart disease (in 40%),
  • hypogonadism

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