Patient Information Resources


Sterling Ridge Orthopaedics & Sports Medicine
6767 Lake Woodlands Drive, Suite F, The Woodlands, TX 77382
20639 Kuykendahl Road, Suite 200, Spring, TX 77379
The Woodlands & Spring, TX .
Ph: 281-364-1122 832-698-011
stacy@srosm.com






Ankle
Child Orthopedics
Elbow
Foot
Fractures
General
Hand
Hip
Knee
Pain Management
Shoulder
Spine - Cervical
Spine - General
Spine - Lumbar
Spine - Thoracic
Wrist

View Web RX

« Back

It wasn't until my uncle died that we discovered Marfan syndrome runs in the family. Now three of our family members (including one of our children) have been diagnosed with this condition. Isn't this something the pediatrician should have picked up?

Marfan syndrome is a genetic disorder of the connective tissue that results in a variety of possible physical features and deformities. These can include defects of the heart valves and aorta. It can also affect the lungs, eyes, the dural sac surrounding the spinal cord, the skeleton, and the hard palate. A family history is helpful but sometimes it doesn't come until a family member dies of heart complications from Marfan syndrome. This is obviously the case in your family. Genetic testing is one way to find out if someone has Marfan syndrome. But genetic testing is expensive and doctors have to identify who might have this disorder before sending anyone and everyone to the genetics expert. And it gets more complicated than that because many children (people) have one or even more of the telltale characteristics of Marfan syndrome -- but they don't actually have this connective tissue disorder. And just as many folks who actually have the syndrome have invisible signs (like the heart problems) that could lead to their premature death. This diagnostic dilemma is one that researchers are working on. Marfan syndrome is not a common problem so finding enough patients with a known diagnosis to use for comparison studies has been difficult. The good news is that your child has been identified and can get the medical care needed to prevent serious problems.

References:

« Back





*Disclaimer:*The information contained herein is compiled from a variety of sources. It may not be complete or timely. It does not cover all diseases, physical conditions, ailments or treatments. The information should NOT be used in place of visit with your healthcare provider, nor should you disregard the advice of your health care provider because of any information you read in this topic.


All content provided by eORTHOPOD® is a registered trademark of Mosaic Medical Group, L.L.C.. Content is the sole property of Mosaic Medical Group, LLC and used herein by permission.