What Connective Tissue Problems are Associated With Fragile X?

Connective tissue includes tissue that binds together, supports and strengthens other body tissues. Some connective tissue protects and insulates internal organs. Bone, cartilage, blood and fat cells are examples of connective tissue. There are a number of physical characteristics of persons with fragile X syndrome that are associated with connective tissue.

Double-jointedness

Both males and females with fragile X may be able to hyper extend their fingers or thumbs. This double-jointedness is a result of loose connective tissue.

Ear infections

Males with fragile X are more likely than their brothers to have otitis media, ear infections, prior to puberty. This may be the result of having a floppy eustachian tube that does not drain the middle ear adequately. 

Circulatory system

A significant number of males and females with fragile X have a click or murmur in the heart called mitral valve prolapse. Often in males with mitral valve prolapse, a blood vessel, the aortic root, is dilated. These abnormalities typically occur after late childhood or adolescence.

Cutis verticis gyrata

Cutis verticis gyrata is an unusual furrowing of the scalp as a result of thickening of parts of the skin. Some males with fragile X have this rare condition.

Flat feet

Finally, a very common physical feature of persons with fragile X is flat feet. Again this is related to loose connective tissue.

For further reading: (These are research articles written to communicate with other professionals.)

• Crabbe, L. S., A. S. Bensky, et al. (1993). "Cardiovascular abnormalities in children with fragile X syndrome." Pediatrics 91(4): 714-5.
• Davids, J. R., R. J. Hagerman, et al. (1990). "Orthopaedic aspects of fragile-X syndrome." Journal of Bone and Joint Surgery. American Volume 72(6): 889-896.
• Hagerman, R. J., D. Altshul-Stark, et al. (1987). "Recurrent otitis media in the fragile X syndrome." American Journal of Diseases of Children 141(2): 184-7.
• Hagerman, R. J. and D. P. Synhorst (1984). "Mitral valve prolapse and aortic dilatation in the fragile X syndrome." American Journal of Medical Genetics 17(1): 123-31.
• Hagerman, R. J., K. Van Housen, et al. (1984). "Consideration of connective tissue dysfunction in the fragile X syndrome." American Journal of Medical Genetics 17(1): 111-21.
• Loehr, J. P., D. P. Synhorst, et al. (1986). "Aortic root dilatation and mitral valve prolapse in the fragile X syndrome." American Journal of Medical Genetics 23(1-2): 189-94.
• Schepis, C., R. Palazzo, et al. (1990). "Prevalence of primary cutis verticis gyrata in a psychiatric population: association with chromosomal fragile sites." ACTA Dermato-Venereologica (Oslo) 70(6): 483-486.
• Waldstein, G., G. Mierau, et al. (1987). "Fragile X syndrome: skin elastin abnormalities." Birth Defects Original Article Series 23(1): 103-114