Physical Symptoms of Fragile X Syndrome
Facial Characteristics
Males The primary physical features that people associate with fragile X syndrome in males are long faces and
prominent ears. These features are more common in males over the age of 10 than among those under 10.
The ears are often wider and longer than usual and may project away from the head. However, long ears are
also common among mentally retarded males who do not have fragile X syndrome.
When compared to mentally retarded males who do not have fragile X syndrome, those with fragile X have a
larger head circumference, head breadth and head length.
Females A premutation in the FMR1 gene typically has little or no impact on a female in terms of behavior and
educational ability. However several facial characteristics such as prominent ears and prominent jaw appear
commonly in females with the premutation.
Females with the full mutation may exhibit some of the physical features associated with fragile X males. These
include facial characteristics such as long face, long ears, prominent ears, and high arched palate.
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.
Macroorchidism (Enlarged Testicles)
Macroorchidism (enlarged testicles) is a common feature in mentally retarded males who do not have fragile X
syndrome. However, macroorchidism is particularly common in males with fragile X syndrome.
Some of the males with fragile X will have macroorchidism before puberty. After puberty, nearly all will have
testicles that are at least 2 times the volume of typical males.