Down syndrome
Disease Information
Overview
Perhaps one of the most profound experiences of a special parenthood is coming to realize that your old perceptions were too limited and that there is much waiting to be embraced. That extra chromosome becomes a ticket to some new warmth and features that change lives and change them well.
Allen C. Crocker, MD
With early intervention and special education, the outlook for children with Down syndrome is far brighter than it once was. Still, at Children’s Hospital Boston, we understand that a diagnosis of Down syndrome comes with a lot of questions and concerns about your child’s health. We’ve provided some answers to some of those questions here, and when you meet with our team of experts, they will be able to address all of your questions and explain your child’s condition in more detail.
Here are some of the basics about Down syndrome:
- Down syndrome is a condition in which babies are born with extra genetic material from chromosome 21.
- The extra chromosome is sometimes accompanied by other conditions, including mild to moderate intellectual disabilities, characteristic facial features, and health concerns such as cardiac defects. The degree of these conditions varies greatly from child to child.
- Trisomy 21 is the most common type of Down syndrome, occurring in about 95 percent of cases. The two other variants of Down syndrome are Translocation Down Syndrome (4%) and Mosaic Down syndrome (1%).
- Down syndrome is the most common genetic birth defect, affecting approximately 1 in every 691 babies.
- Down syndrome, itself, does not have a cure. But, treatment is available for many of the other symptoms and conditions that can accompany the diagnosis.
- Life expectancy for people with Down syndrome is about 55-60 years, though average life span varies.
How Boston Children's Hospital approaches Down syndrome:
At Children’s Down Syndrome Program in the Developmental Medicine Center, we offer multidisciplinary clinical evaluations for people with Down syndrome from birth until the age of 18. With each appointment, we are also able to make referrals and connections with any of our other specialty clinics.
Our Down Syndrome Program is more than a clinic, however. We strive to provide resources, advocacy, and supports to all families, depending on their individual needs. To learn more, read our Down Syndrome Program brochure
Down syndrome: Reviewed by Emily Jean Davidson, MD, and Brian Skotko, MD © Children’s Hospital Boston, 2011
#1 in Neurology & Neurosurgery
#1 ranked pediatric hospital in the nation. Learn more
Related conditions and treatments
SPOTLIGHT: Will we cull those with Down Syndrome?
Debate over prenatal testing for Down syndrome continues
Brian Skotko, MD, MPP a clinical fellow in genetics at Children’s Hospital Boston’s Down Syndrome Program, recently wrote a Thrive editorial about a soon-to-be available prenatal test for Down syndrome, which could safely and inexpensively detect whether or not a fetus has Down syndrome during the first trimester of a pregnancy.
Clinical Services
