Skip to Main Content

++

Key Features

++

  • Occurs in about 1:700 newborns

  • Cognitive disabilities in the mild/moderate range

  • Generalized hypotonia

  • Prolonged physiologic jaundice

  • Transient blood count abnormalities

  • Feeding problems and constipation common during infancy

++

Clinical Findings

++

  • Flattened occiput

  • Characteristic facies

    • Upslanting palpebral fissures

    • Epicanthal folds

    • Midface hypoplasia

    • Small, dysplastic pinnae

  • Minor limb abnormalities

  • About 33–50% of children have congenital heart disease, most often endocardial cushion defects or other septal defects

  • Anomalies of the gastrointestinal tract, including esophageal and duodenal atresias, are seen in about 15% of cases

++

Diagnosis

++

  • Problems that may develop during childhood include

    • Thyroid dysfunction

    • Visual issues

    • Hearing loss

    • Obstructive sleep apnea

    • Celiac disease

    • Atlanto-occipital instability

    • Autism

  • Leukemia is 12–20 times more common in patients with Down syndrome

++

Treatment

++

  • Interventions for specific issues indicated

    • Surgical intervention for cardiac and gastrointestinal anomalies

    • Screening for autoimmune disorders, such as hypothyroidism and celiac disease

    • Developmental supports, such as

      • Infant stimulation programs

      • Special education

      • Physical, occupational, and speech therapies

  • Parents' participation in support groups such as the local chapter of the National Down Syndrome Congress should be encouraged (see http://www.ndss.org/)

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.