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Genetic Disorders
 
 

Down Syndrome

 
 
 
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On this page:Manifestations

Overview

Down syndrome occurs as a result of trisomy 21, or three copies of chromosome 21.

Manifestations

  • Clinical Features

  • Short stature
  • Brachycephaly: flat head
  • Flat nasal bridge
  • Open mouth with protuberant tongue
  • Epicanthal folds: a fold of skin of the upper eyelid that covers the inner corner of the eye
  • Ligamentous laxity
  • Hypotonia: low muscle tone
  • Brachydactyly: short fingers and toes
  • Fifth finger clinodactyly: bending of the little finger toward the ring finger
  • Broad hands, single palmar crease
  • Wide 1-2 toe gap
  • Complications of Down Syndrome

  • Cardiovascular: At Birth

  • Atrioventricular (AV) septal defects
  • Ventricular septal defect
  • Atrial (secundum) septal defect
  • Persistent ductus arteriosus
  • Tetralogy of Fallot
  • Cardiovascular: In Adolescence

  • Mitral valve prolapse
  • Aortic regurgitation
  • Other

  • Developmental Delay
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