Down syndrome, which is the most frequently occurring chromosomal disorder, is a genetic condition caused by the presence of all or part of an extra 21st chromosome. This condition is usually identified at birth or shortly after; however, the diagnosis must be confirmed by a chromosome study or karyotype. For information about Down syndrome for new or expectant parents, please visit our patient education resource page on the topic.
Features of Down Syndrome
Individuals with Down syndrome often have some of the same physical features:
- Flat facial profile.
- Upward slant to the eyes.
- Small hands, feet and ears.
- Low muscle tone.
Many people with Down syndrome have additional medical problems. Down syndrome patients usually have delays in physical, intellectual and language development. Children sometimes have difficulty learning fundamental skills such as feeding, dressing and toilet-training. Our multidisciplinary team can help with speech, physical or occupational therapy.
Down syndrome patients are also at a higher risk for other medical conditions, including:
- Thyroid problems.
- Intestinal abnormalities.
- Hearing and vision problems.
- Congenital heart defect.
- Respiratory problems.
- Childhood leukemia.
