Pharmacy Clinical Pearl of the Day: Down Syndrome

Author(s):

Down syndrome is the most common genetic chromosomal disorder and cause of learning disabilities in children.

Clinical Pearl of the Day: Down Syndrome

Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21.

Insight:

Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays.
It's the most common genetic chromosomal disorder and cause of learning disabilities in children.
Symptoms include flattened face, small head, short neck, protruding tongue, upward slanting eye lids, poor muscle tone, excessive flexibility, and short height.
Causes might be Trisomy 21, Mosaic Down syndrome and Translocation Down syndrome.
Early detection of the disorder will help the family take action faster and consult many providers, such as endocrinology, cardiology, neurology, speech, and physical therapy.

Sources:

Down syndrome - Symptoms and causes - Mayo Clinic