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Down syndrome - Symptoms, Causes, Diagnosis and Treatment

Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children who have Down syndrome tend to have certain features, such as a flat face and a short neck. They also have some degree of intellectual disability.

Causes of Down Syndrome:

Most people with Down syndrome have 47 chromosomes. Down syndrome is caused by a problem with a baby’s chromosomes. Normally, a person has 46 chromosomes. In rare cases, other chromosome problems cause Down syndrome. Childbirth at an advanced age (> 35 yrs) is a risk factor for Down syndrome.

Symptoms of Down Syndrome:

Most children with Down syndrome have:

  • The groove between the first and second toe (sandal gap)
  • Broad hands with short fingers
  • Palm may have only one crease (palmar crease)
  • Flattened face
  • Small head
  • Short neck
  • Protruding tongue
  • Upward slanting eyelids (palpebral fissures)
  • Unusually shaped or small ears
  • Poor muscle tone
  • Broad, short hands with a single crease in the palm
  • Relatively short fingers and small hands and feet
  • Excessive flexibility
  • Short height

How to diagnose Down Syndrome?

  • Screening tests, such as an ultrasound or a blood test during your first or second trimester. These can help show if the developing baby (fetus) is at risk for Down syndrome. But these tests sometimes give false-positive or false-negative results.
  • Diagnostic tests, such as chorionic villus sampling or amniocentesis. These can show if a baby has Down syndrome.

Treatment Overview of Down Syndrome

It is common to experience a wide range of emotions when your baby is born with Down syndrome. While you have joy from your child’s birth, you will also need to learn about and care for his or her special care needs. Treatment for Down syndrome focuses on making sure that your child has regular medical checkups, helping your child develop, watching for early signs of health problems, and finding support.