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.
- A occlusion (or blocking) in the case of requiring surgery. It affects around 10% of newborns with Down’s syndrome.
- A hearing loss.
- A 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/ |