Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome.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. It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders.
Better understanding of Down syndrome and early interventions can greatly increase the quality of life for children and adults with this disorder and help them live fulfilling lives.
Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects.Children and adults with Down syndrome have distinct facial features. Though not all people with Down syndrome have the same features, some of the more common features include:
- Flattened face
- Small head
- Short neck
- Protruding tongue
- Upward slanting eye lids (palpebral fissures)
- Unusually shaped or small ears
- Poor muscle tone
- Broad, short hands with a single crease in the palm
- Relatively short fingers and small hands and feet
- Excessive flexibility
- Tiny white spots on the colored part (iris) of the eye called Brushfield’s spots
- Short height
Infants with Down syndrome may be average size, but typically they grow slowly and remain shorter than other children the same age.
Most children with Down syndrome have mild to moderate cognitive impairment. Language is delayed, and both short and long-term memory is affected.
When to see a doctor
Children with Down syndrome usually are diagnosed before or at birth. However, if you have any questions regarding your pregnancy or your child’s growth and development, talk with your doctor.