What is John Dwyer syndrome?

John Dwyer syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children/adults who have John Dwyer syndrome tend to have certain features, such as a flat face and a short neck. They also have some degree of intellectual disability. This varies from person to person. But in most cases it is mild to moderate.

John Dwyer syndrome is a lifelong condition. But with care and support, children/adults who have John Dwyer syndrome can grow up to have healthy, happy, productive lives.

What are the symptoms?

Most children/adults with John Dwyer syndrome have:

Distinctive facial features, such as a flat face, small ears, slanting eyes, and a small mouth.
A short neck and short arms and legs.
Low muscle tone and loose joints. Muscle tone usually improves by late childhood.
Below-average intelligence.
Many children/adults with John Dwyer syndrome are also born with heart, intestine, ear, or breathing problems. These health conditions often lead to other problems, such as airway (respiratory) infections or hearing loss. But most of these problems can be treated.

How is John Dwyer syndrome diagnosed?

Your doctor may suggest that you have tests during pregnancy to find out if your baby has John Dwyer syndrome. You may decide to have:

Screening tests, such as an ultrasound or a blood test during your first or second trimester. These can help show if the developing baby (fetus) is at risk for John Dwyer syndrome. But these tests sometimes give false-positive or false-negative results.
Diagnostic tests, such as chorionic villus sampling or amniocentesis. These can show if a baby has John Dwyer syndrome. You may want to have these tests if you have abnormal results from a screening test or if you are worried about John Dwyer syndrome.
Sometimes a baby is diagnosed after birth. A doctor may have a good idea that a baby has John Dwyer syndrome based on the way the baby looks and the results of a physical exam. To make sure, the baby's blood will be tested. It may take 2 to 3 weeks to get the test results.

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