The pediatrician seems concerned that your child’s arms and legs seem longer than normal. Will he or she just grow up to be tall? A good pediatrician screens children for signs of syndromes that might not be apparent to parents. Particularly long limbs are possible indicators of at least two: Marfan syndrome and Ehlers-Danlos syndrome.
These syndromes are both relatively rare, inherited genetic conditions that affect connective tissue. Because connective tissue provides cell structure, it exists throughout every part of the body, from the eyes to the bones.
- In Marfan syndrome, the connective tissue is weakened because of a defect in the production of fibrillin, a protein. Cardiovascular complications can occur as well. Fortunately, compared to decades ago, heart and circulatory defects can be detected earlier and treated with monitoring, medication or surgery.
- Ehlers-Danlos syndrome has at least six subvariations, all of which involve the collagen component of connective tissue. While all forms affect the musculoskeletal system significantly, one variation particularly impacts the skin, for example; another, the joints; and yet another, the cardiovascular system.
Anyone with Marfan syndrome should strive to stay fit, but sports and exercises that put excess stress on the heart or lungs, or that could involve chest blows, are off-limits. We can help structure routines involving activities such as walking, swimming, dancing or cycling. Sports to avoid include football, basketball and weightlifting. But strength training can confer a huge benefit: It can improve posture, reduce back pain and scoliosis risk, increase bone-mineral density and contribute to overall quality of life.
Fitness is important for those with Ehler-Danlos, as well. We can design physical therapy routines that carefully take all limitations into account. Joint-stabilization exercises might be appropriate for one patient, for instance, possibly in conjunction with supportive braces. For another, a major concern may be assuring the proper rest breaks during aerobic exercise to minimize heart strain.
Your pediatrician will likely want your child to undergo further testing to rule out or diagnose one of these syndromes. While it is undeniably difficult to learn that your child has obstacles to overcome on the path to a “normal” life, caring medical professionals, including our physical therapy team, can lend support by helping your child manage symptoms to attain a better quality of life.
