Down syndrome is a genetic condition that occurs when a person has one extra chromosome — 47 instead of the usual 46. Most babies inherit 23 chromosomes from each parent, for a total of 46 chromosomes. Babies with Down syndrome end up with three chromosomes at position 21, instead of the usual pair. Other examples of trisomies occur at position 13 and 18.
Trisomy 21 is the most common of the three, occurring in 1 out of every 691 births. The disorder was first identified in 1866 by John Langdon Down, a British physician, and later named after him.
Children with Down syndrome can have mild to moderate intellectual disabilities and various health problems including heart, kidney and other issues. Children with this syndrome will have very flexible joints and are usually shorter than normal height.
The facial features of a baby with Down syndrome look different from other children. They typically have a small head, flat-looking face, flat bridge of the nose and smaller than normal nose, mouth, ears and hands. Their eyes slant upward, with extra folds of skin at the corner of each eye and near the nose.
Children with Down syndrome can also develop cervical spine instability as they grow. Most often this occurs at the upper two levels of the cervical spine.
Down syndrome occurs because of the extra copy of chromosome 21, which can cause the body and brain to develop differently than a child without the syndrome.
Besides those listed above, symptoms of Down syndrome include:
Tests to confirm Down syndrome are often done before a baby is born through amniocentesis or chorionic villus sampling (CVS).
For amniocentesis, a needle is inserted through the mother’s abdominal wall into the amniotic sac and a small sample of amniotic fluid is drawn out and tested in a laboratory.
After birth, diagnostic evaluation begins with a thorough medical history and physical examination of your child. At The Children’s Hospital of Philadelphia, clinical experts use a variety of diagnostic tests to diagnose Down syndrome and complications from the disorder, including:
There is no cure for Down syndrome. Treatment is ordered when certain issues — such as heart problems, muscle weaknesses or spinal curvatures — occur and need to be treated.
At The Children’s Hospital of Philadelphia, we practice collaborative, family-centered care. A team of expert clinicians — including leading orthopedic surgeons and physicians, pediatric nurses, physical and occupational therapists, psychologists and other specialists — will partner with you in the care of your child.
Many children with Down syndrome are also diagnosed with a variety of orthopedic conditions including: scoliosis, hip dysplasia, and hand and foot anomalies. In some cases, these conditions are present at birth and can be treated when the child is young.
In other cases the complications from Down syndrome may only become evident — or problematic — as your child grows. This is often true for spinal deformities such as scoliosis and hip conditions that might require surgical correction.
Every child’s condition is different, so treatment is determined on a case-by-case basis. For example, if your child has scoliosis, our team of specialists will consider the severity of the curve, where it occurs in the spine, and your child's age and stage of growth, before determining the best course of action.
Treatment may include non-surgical options such as bracing and physical therapy, or surgical options such as spinal fusion or implanting growing rods to stabilize your child’s spine as she continues to grow.
Your child with Down syndrome should continue to be monitored by a physician into adulthood. Experts in the Trisomy 21 Program at CHOP are available to help you care for your child with Down syndrome at all stages of growth and is one of the few programs at Children's Hospital that treats patients into old age.
If your child had spine surgery, he or she will need to see the orthopedic surgeon about one to two weeks after surgery, then again at three and six months post-surgery. After that, annual monitoring by trained clinicians is strongly encouraged to ensure any problems are spotted and treated as soon as possible.
Additionally, physicians may recommend your child see several different specialists because so many body systems are involved in a diagnosis of Down syndrome.
For example, your child may see:
During follow-up visits, X-rays and other diagnostic testing may be done. The goal of continued monitoring is to help spot any irregularities in growth or development and to address health issues as they develop.
Follow-up care and ongoing support and services are available at our Main Campus and throughout our CHOP Care Network. Our team is committed to partnering with parents and referring physicians to provide the most current, comprehensive and specialized care possible for your child.
Children with Down syndrome are at higher risk of developing certain health conditions, such as heart disease, gastrointestinal abnormalities and dementia. Early diagnosis and treatment of these associated conditions leads to better outcomes.
With regular medical care and a solid support system, children with Down syndrome can lead long, full and happy lives.
To make an appointment with the Division of Orthopedic Surgery at The Children's Hospital of Philadelphia, call 215-590-1527 or contact us online.
Reviewed by: Denis S. Drummond, MD
Date: May 2013