Down Syndrome Symptoms – Physical Changes And Birth Defects

Down syndrome symptoms can be mainly noted in people who suffer from the condition. This disorder is one of the most common numerical chromosomal anomalies caused by an extra chromosome 21. The presence of an extra chromosome 21 produces several typical physical features that affect normal cognitive abilities.

Can Down Syndrome Symptoms Vary?

Although the cause of Down syndrome is the same, the symptoms exhibited in individuals  might vary. So far, about 120 differentiating features involving physical features, medical issues, developmental delays, and psychological conditions have been identified as Down syndrome symptoms.

Some individuals may have mild symptoms of Down syndrome, while others may experience severe symptoms. The common characteristic Down syndrome symptoms have been featured below.

down syndrome symptoms

Down syndrome symptoms include physical features that are easily distinguishable.

Down Syndrome Symptoms: Physical Features

Down syndrome symptoms include the following physical features.

  • The average height of an individual with Down syndrome is usually less when compared to a normal adult.
  • The head is generally smaller and shaped abnormally, with a flat face. The eyes slant upward with white spots on the iris.
  • The nasal bridge looks pushed in and is usually flat between the eyes and the nose.
  • The mouth is irregularly shaped with the palate (roof of the mouth) high and narrow with a descending curve, and with the tongue sticking out partly.
  • The teeth, which are crooked and irregular, develop late when compared to normal children.
  • The ears are set low on the head and are small in size.
  • The neck is short and wide, with excess skin and fat.
  • The overall body muscle is weak.
  • The arms and legs are short and stocky with wide space between the first toe and the second toe.
  • On the palm of the hand, a single deep transverse crease rests in the place of three creases (which is normal).

Down Syndrome Symptoms: Birth Defects

  • Individuals with Down syndrome have intellectual disability, which could be mild or moderate.
  • The average IQ score for the general population is about 100, whereas individuals with Down syndrome have an IQ between 25 and 80 (the average being around 50).
  • Among birth defects in children with Down syndrome, about 50% of them have heart defects, like a hole in the heart.
  • Cataract is a common eye problem that affects children with Down syndrome.
  • Conditions like respiratory infections, ear infections, hypothyroidism, gastro-esophageal reflux disease, obstructive sleep apnea, and celiac disease are also common.
  • Behavioral issues that are associated with autism and Attention Deficient Hyperactive Disorder (ADHD) are also common Down syndrome symptoms.

Some individuals with Down syndrome might face only a few of the above conditions while others might suffer from all these issues. Down syndrome symptoms are many in number, and to counter this, doctors usually run a prenatal Down syndrome screening test to ensure that the child is healthy, before it is born.


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