Symptoms and Signs of Down Syndrome

Medical Author:
Medically Reviewed on 5/5/2022

Doctor's Notes on Down Syndrome

Down syndrome is a genetic disorder caused by the person having an extra chromosome 21. In some people, chromosome 21 fuses with another chromosome; this is called Robertsonian translocation while others have small pieces of chromosome 21 incorporated into other chromosomes (termed partial or segmental trisomy 21). Another variation is termed mosaic Down syndrome where some cells have three copies of chromosome 21, but others have the normal two. Signs and symptoms of Down syndrome at birth may include decreased muscle tone with normal growth and development delayed and they have cognitive impairment. With growth, facial features usually include a

  • flattened nose,
  • small mouth,
  • tongue protrusion,
  • small ears, and
  • upward-slanting eyes with white spots on the iris.

Hands and fingers are short, and hands may have a single palmar crease. People with Down syndrome rarely reproduce. Robertsonian translocations can be passed to offspring who will then have Down syndrome.

Each person with Down syndrome is unique and may exhibit a wide variation of signs and symptoms, emotions, abilities, and developmental levels, including cognitive.

Advanced maternal age is the major risk factor for Down syndrome development.

What Are the Treatments for Down Syndrome?

There are no treatments to treat the genetic problem. In addition, each patient is unique and has individual needs. A Down syndrome patient may need special care by some of the following experts, depending on the patient's problems:

  • Primary care pediatrician to coordinate and provide routine childhood care
  • Pediatric cardiologist
  • Pediatric gastroenterologist
  • Pediatric endocrinologist
  • Developmental pediatrician
  • Pediatric neurologist
  • Pediatric ear, nose, and throat (ENT) specialist
  • Pediatric eye doctor (ophthalmologist)
  • Audiologist
  • Speech pathologist
  • Physical therapist
  • Occupational therapist

Your child with Down syndrome can, especially if started early with interventions recommended by your child's expert team members, may have a good quality of life.

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REFERENCE:

Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.