Physical features like large heads, prominent foreheads and chins, loose joints, large testicles and protruding ears, may not develop until puberty. In some cases, the parents are carriers of this mutation but it doesn't necessarily mean the symptoms will show up or that they will be passed on to their children.
Physical characteristics of Fragile X resemble signs of Down syndrome, with features like pronounced chins and foreheads, large heads and long ears that protrude from the head. Long faces, connective tissue problems, flat feet, ear infections, being double-jointed, having enlarged testicles and problematic menstrual cycles are other common physical symptoms.
These features are more common for males over 10 and women who have gone through puberty. The classic long face, prominent ears and enlarged testes is said to only be present in 60% of cases. At least 10% of cases show only intellectual impairment.
To treat moderate or severe cases of Fragile X syndrome, emphasis is placed on education, therapy and sometimes medication to treat behavioral side effects. Thanks to the Individuals with Disabilities Education Act (1997), parents can obtain free educational services and devices for their children from age 3 until high school.
The law further mandates that children be taught in an individualized environment, so a combination of one-on-one tutoring, small group work and classroom instruction may all be used. Often, Autism, Fragile X and Down syndrome education are very similar, with an emphasis on early speech therapy, occupational therapy, physical therapy to improve coordination and behavioral therapy.
If a woman is diagnosed with Fragile X syndrome, then she has a 50% chance of passing the gene on to her children. Yet a male carrier has 100% chance of passing the gene on to his daughters, who always inherit his X chromosome, and no chance of passing the gene onto his sons, who only get his Y chromosome.
If the number of protein repeats stays the same when passed down, then the child will be another pre-mutation carrier that may show no symptoms; however, if the number of repeats exceeds more than 200, the child will have the full mutation. Boys tend to suffer more of the symptoms of Down syndrome type retardation and physical expressions.
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