Down Syndrome: Symptoms, Screenings and Health Supervision

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According to the Centers for Disease Control and Prevention, about one in every 700 babies in the US is born with Down syndrome, making the disorder the most common chromosomal condition.

Individuals with Down syndrome have specific physical features, medical conditions and cognitive impairments due to the presence of extra genetic material from chromosome 21. However, there is variability in personalities and expression of the condition.

Physical Characteristics

While not all individuals with Down syndrome share the same physical characteristics, there are a number of features that tend to be present in this genetic disorder. For this reason, people with Down syndrome tend to have a somewhat similar appearance. Some of these physical features include:

  • Epicanthic folds (extra skin of the inner eyelid, which gives the eyes an almond shape)
  • Upward-slanting eyes
  • Brachycephaly (a small head that is slightly flattened in the back)
  • Hypotonia (low muscle tone)
  • A flat nasal bridge
  • Single transverse palmar creases
  • A short fifth finger
  • Short stature

Other Symptoms

While not all individuals with Down syndrome will have all the following symptoms, other potential health concerns associated with the disorder include:

  • Vision problems (refractive errors) and eye abnormalities (cataracts)
  • Hearing impairment and ear infections
  • Congenital heart defects
  • Spine abnormalities (atlantoaxial instability)
  • Hip dysplasia
  • Congenital/structural gastrointestinal abnormalities (Hirschsprung's; intestinal atresia)
  • Hypothyroidism
  • Blood disorders (anemia; myeloproliferative disorders, including leukemia)
  • Excessive weight gain
  • Decreased physical activity
  • Sleep apnea
  • Dental problems (hypodontia; delayed tooth eruption)
  • Autism spectrum disorder
  • Neurological dysfunction
  • Impaired cognitive and adaptive abilities

Life-Long Health Supervision

Not everyone is familiar with the multiple areas of concern that need careful, routine medical monitoring to ensure that all individuals with Down syndrome receive the care they need.

The American Academy of Pediatrics (AAP) published a comprehensive report, entitled "Health Supervision for Children with Down Syndrome," which lists specific screening recommendations through adulthood. The study illustrates why it’s important for an individual's healthcare provider or medical team be familiar with these guidelines and perform the recommended tests and screening for individuals with Down syndrome.

At Ochsner, The Michael R. Boh Center for Child Development features a specialized, multi-specialty clinic designed to address the multitude of needs of individuals with Down Syndrome. Learn more by clicking here.