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Genetics

When a child is born with Pierre Robin Sequence, a thorough genetic evaluation should be performed during their first year of life. Stickler Syndrome is the most likely genetic syndrome associated with PRS, a vision and hearing test should be ordered soon after birth. Another very common condition associated with PRS is Velocardiofacial syndrome.

There are many other conditions associated with PRS, the best plan is a thorough genetic work up to get baselines and rule out other conditions. Please see our section on Associated Conditions and Syndromes for a comprehensive list of other conditions and links to information.

Due to the possibility of Stickler Syndrome, periodic vision and hearing checks should be continued always, with vision checks at least once a year. Make sure the eyes are dilated so the doctor can get a good look at the retina. Scoliosis, a curvature of the spine, is less common with Sticklers Syndrome than vision or hearing problems, but is still a concern. With each well child appointment, have his or her pediatrician check for scoliosis. Be particularly vigilant as your son or daughter enters adolescence, as this is the most likely time for a curve to develop.

When you have a genetic evaluation appointment, it is good to be prepared in advance. Spend some time making a list of any physical abnormalities in the Father or Mother's extended family. The Doctor will want to examine your child thoroughly and possibly look at the palate of both parents. Baby pictures of Mom, Dad and baby are helpful since Sticklers Syndrome, in particular, has a characteristic appearance in early childhood.

Physical appearance and manifestation of symptoms is the best determination if a patient has Sticklers Syndrome. A blood test may be ordered, but consider that it is not always conclusive and very expensive. Please always remember that Sticklers is difficult to rule out, since many of it's symptoms may not be noticeable for many years. Always continue the vision, hearing and scoliosis screenings.

And while it is important to remember that your child may have a genetic syndrome that caused the Pierre Robin Sequence, do not let it cause you unnecessary alarm. Be aware of what medical conditions to watch for, and then relax and enjoy your child, knowing that you are doing all you can to encourage their good health.
 

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