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How to Understand Down Syndrome

Learn about Down Syndrome from pediatrician Dyan Hes, M.D. in this Howcast video about newborn and baby development.

Transcript

Down syndrome is also known as trisomy 21. It's a genetic defect in the baby. Parents always want to know what is the prognosis of Down syndrome, and every Down syndrome baby has a different course.

There are some common features to Down syndrome. The babies usually have wonderful personalities, and they're very warm as children. Down syndrome babies have typical facial features. They can have epicanthal folds over their eyes. They can have a large tongue. They often have a simian crease along their hands. They can have an extra wide space between their toes. Some Down syndrome babies have clinodactyly, which is a curvature of the fifth digit on each finger, and sometimes on the toes as well.

Not all Down syndrome babies have the same findings. More importantly than the physical features are the heart defects. Many Down syndrome babies have congenital heart defects. The most common one is a VSD, ventricular septal defect. And another one that is very common in Down syndrome is an endocardio cushion defect. It is imperative, if you have a baby with Down syndrome, that you have a cardiology visit once a year.

Babies with Down syndrome are also at increased risk for leukemias. Your pediatrician will be very well-versed in taking care of a Down syndrome baby and making sure that your baby is kept up to date as far as screenings for leukemia, heart defects, and other problems including low tone and physical therapy that the baby might need throughout their life.

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