Physical attributes of those with FXS

The Young Child

The physical attributes of Fragile X do not differ much from other infants and young children. Sometimes their skin will be very silky soft. Also their facial features could vary slightly. Some have wider foreheads and larger heads than other children their age.

During puberty

During their pre-teen years, they may be able to begin to develop some of the features which are typical of teenagers and adults with Fragile X. Their face and jaw may grow longer than their peers, and their ears are often larger. These young ladies and men often do not grow as tall as other family members.

Only in some young men with FXS

There is a change which is specific only to males who have FXS. It is called Macro-orchidism and is a condition in which the boy’s testicles enlarge and grow almost twice their normal size as the condition progresses. It does not, however, have any affect on their sexual development and it is not due to any hormonal imbalance.

Weak connective tissue is an issue

Individuals with FXS have weak connective tissue. This weak connective tissue causes them to have loose flexible joints and flat feet, but it also causes some health problems.  They can have a tendency towards frequent middle ear infections and hernias. Their heart can also be affected and are prone to heart murmurs. It is usually not a life-threatening condition,, but they will need extra monitoring by physicians on a regular basis. Some males as they grow older may experience trouble walking and hand tremors.

Only in some young ladies with FXS

There is one change which is specific to  some females with FXS. Around 16-19% of females with FXS develop POF (Premature Ovarian Failure).  If they have the premutation gene, their ovaries stop functioning before menopause, and sometimes as early as their mid-twenties. POF only affects their ability to become pregnant. Any woman with FXS should find out if she carries the permutation gene before she considers starting a family. Researchers have also noted that all woman with FXS seem to reach menopause earlier on average than woman who do not have FXS, even if they do not have the permutation gene.

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