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Am Fam Physician. 1999;59(2):392

See related article on Down syndrome.

What is Down syndrome?

Down syndrome is a genetic disorder caused by an extra chromosome number 21. It's named after the doctor who discovered its cause.

How is Down syndrome diagnosed?

There are two tests can be done before birth to find out if a baby has Down syndrome. Tissue and fluid in the womb around the baby can be checked for the extra chromosome. After birth, if the baby has any of the physical signs or birth defects of Down syndrome, the baby's blood can be tested to check for the extra chromosome.

What are the physical signs and birth defects of Down syndrome?

Some of the most common physical signs of Down syndrome are folds at the inner corners of the eyes, a flat nose bridge, ears that are small or look lower than usual, curved “pinky” fingers and a gap between the big toe and the second toe. None of these signs will cause health problems.

Some birth defects associated with Down syndrome cause more serious health problems. Babies with Down syndrome often have poor muscle tone or problems in their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow to learn).

Since I learned my baby has Down syndrome, I've been confused and upset. What can I do?

It's usually a surprise and a disappointment to find out your baby isn't the “perfect” baby you hoped for. You may feel disappointment, grief, anger, frustration, fear and anxiety about the future. These feelings are all normal. Talking to other parents of children with Down syndrome can be helpful, because they know how you are feeling.

Will my child fit in with other children?

Children with Down syndrome have all the same moods and emotions that other children have. They love to learn new things, just like other children. They have beautiful smiles, and they enjoy laughing—just like other children.

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