Condition

Down Syndrome

Down syndrome is a condition in which a person is born with an extra copy of chromosome 21.

Neurology

Overview

Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. 

This additional genetic material causes the characteristic physical problems, as well as intellectual disabilities, although every person born with Down syndrome is unique.

A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm. These common characteristics occur in varying degrees and sometimes not at all.

There are three types of Down syndrome:  trisomy 21 (nondisjunction), translocation and mosaicism.

 

Symptoms

  • A flattened or oval-shaped face
  • Almond-shaped eyes that slant up
  • An extra skin fold on the upper eyelid (epicanthal fold)
  • A small nose with a flat bridge
  • A short neck
  • Small, low-set ears
  • A tongue that tends to stick out of the mouth
  • Tiny white spots on the iris (colored part) of the eye
  • Small hands and feet
  • A single line across the palm of the hand (palmar crease)
  • Small pinky fingers that sometimes curve toward the thumb
  • Poor muscle tone or loose joints
  • Shorter in height as children and adult

Causes & risk factors

Someone with Down syndrome has an extra copy of chromosome number 21 in the cells of their body. This is also known as trisomy 21. Trisomy refers to the fact that there are three copies of chromosome 21. Because there is an extra chromosome 21, there is extra genetic material in the body. This causes the typical features of Down syndrome. There are different ways that trisomy 21 can occur.

When to get help

Work with your child's care team for regular check-ups, since Down syndrome can affect the heart, hearing, vision, and thyroid. Seek prompt care for feeding difficulties, breathing problems, or developmental concerns.

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All information on this site is provided “as-is” for informational purposes only and is not a substitute for medical advice or treatment. You should consult with a medical professional if you have any questions about your health.