Symptoms of Trisomy 21 (Down Syndrome)

Symptoms of Trisomy 21 (Down Syndrome)

From a very young age, a child with Down’s syndrome has characteristic physical features:

  • A “flattened” profile.
  • Slanting eyes.
  • An epicanthus (= skin folds above the upper eyelid).
  • A flat nasal bridge.
  • Hypertrophy and protrusion of the tongue (the tongue is abnormally advanced forward).
  • A small head and small ears.
  • A short neck.
  • A single crease in the palms of the hand, called a single transverse palmar crease.
  • A smallness of the limbs and the trunk.
  • Muscle hypotonia (= all muscles are soft) and abnormally flexible joints (= hyperlaxity).
  • Slow growing and generally smaller in height than children of the same age.
  • In babies, delayed learning such as turning, sitting and crawling due to poor muscle tone. This learning is generally done at double the age of children without Down’s syndrome.
  • Mild to moderate mental retardation.

Complications

Children with Down’s syndrome sometimes suffer from certain specific complications:

  • Heart defects. According to the Canadian Down Syndrome Society (SCSD), more than 40% of children with the syndrome have a congenital heart defect present from birth.
  • occlusion (or blocking) in the case of requiring surgery. It affects around 10% of newborns with Down’s syndrome.
  • hearing loss.
  • susceptibility to infections like for example pneumonia, due to a decrease in immunity.
  • An increased risk of hypothyroidism (low thyroid hormone), leukemia or seizures.
  • Un language delay, sometimes aggravated by hearing loss.
  • benefits eye and vision problems (cataracts, strabismus, myopia or hyperopia are more common).
  • An increased risk of sleep apnea.
  • A tendency to obesity.
  • In affected men, sterility. Pregnancy is however possible in most women.
  • Adults with the disease are also more prone to early-onset Alzheimer’s disease.

Since 2012, the UN has officially recognized the March 21 as the “World Down Syndrome Day”. This date symbolizes the 3 chromosomes 21 at the origin of the disease. The purpose of this Day is to raise awareness and inform the general public about Down’s syndrome. Http://www.journee-mondiale.com/

 

 

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