Several physical features are commonly associated with fragile X syndrome. Males with fragile X syndrome often have distinctive facial features, connective tissue problems, and enlarged testicles (macroorchidism).
Typically these features do not appear until after the onset of puberty. None of these features occur in all males with fragile X syndrome. And, these features appear in some males without fragile X syndrome. Therefore, the presence or absence of a particular feature does not demonstrate the presence or absence of fragile X syndrome.
Females with fragile X syndrome may share some of the physical features seen in males but usually to a lesser degree. In addition, Fragile X has an impact on the menstrual cycle in some carrier females. (see: <http://www.fragilex.org/html/pof.htm>Premature Ovarian Failure POF and Fragile X
What facial characteristics are common in fragile X syndrome?
What connective tissue problems are associated with fragile X?
Macroorchidism (enlarged testicles) and fragile X
Reprinted with the permission of the National Fragile X Foundation. © 1998-2007 NFXF.
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