Also known as: Trisomy 21
What is Down Syndrome?
Normally all cells in the body have 23 pairs of rod-like structures called chromosomes which carry the genetic material (genes) we get from our parents and which control how we look, how we grow and how we will function physically, emotionally and intellectually, etc.
Chromosomal and genetic abnormalities can change all or some of these characteristics. Down syndrome babies/children and adults all have an extra full or partial piece of chromosome 21. It is the commonest chromosomal disorder in the USA.
What causes Down syndrome?
There are 3 types of Down syndrome which result from different mechanisms, all of which result in an extra piece of chromosome 21 in some or all of their cells. While the exact cause is unknown, a mother's age (older than 35 years), and/or there being a sibling with Down syndrome seems to increase the chances for a Down syndrome baby.
What are the signs/symptoms of Down syndrome?
Babies with Down syndrome are usually diagnosed at birth by the presence of a number of physical signs. These include:
They also have a variable degree of intellectual disability. Down syndrome babies frequently have other abnormalities like heart, intestine, ear or lung problems.
What are Down syndrome care options?
While there is no cure for Down syndrome, parents and their pediatrician along with the appropriate specialists, will have a management plan to treat any other physical abnormality, minimize any potential complication and to optimize the physical, intellectual and emotional well-being of the child with a special education program and help with learning, speech, nutrition and movement.
Reviewed by: Parul B Jayakar, MD
This page was last updated on: March 04, 2020 10:08 AM
Weekly Support Programs
This event has been postponed. Please join us for an intimate conversation on personalized medicine and preconception screening, with special speakers Vladi Yurovsky, Daria Salyakina, Phd, and Debbie Wasserman, MS. Come get screened for Jewish genetic diseases!
Learn more about
Neuromuscular diseases are a large complex group of different types of disorders (for example muscular dystrophies) which affect the cells in the spinal cord, the nerves, the junction between the nerve and muscle (neuromuscular junction) and/or the muscles, that allow for muscle movement.
Genetic diseases are conditions that occur due to a mutation in a gene in the body’s cells.
Birth Defects and Congenital Anomalies
Any unusual physical feature or health problem that is present at the birth of a baby is known as a birth defect or a congenital anomaly.
Occupational therapy is a form of therapy that helps people rehabilitate through exercises and other means in order to perform their ordinary, daily tasks or work-related functions.
Tracking Rehabilitative Advancement through Accountable Care (TRAAC)
TRAAC (Tracking Rehabilitative Advancement through Accountable Care) is the service delivery model of care for rehabilitation at Nicklaus Children’s Hospital.