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.
- 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.
Down syndrome - Symptoms and causes - Mayo Clinic