Triple X syndrome is a genetic
condition found in females only. About 1 in 1,000 girls have it.
Girls with triple X syndrome — also known as XXX syndrome, trisomy X, and
47,XXX, — might be taller than other girls. Other symptoms can include problems
with spoken language and processing spoken words, coordination problems, and weaker
Most girls with triple X syndrome can grow up healthy, have normal sexual
development and fertility, and lead productive lives.
Depending on which symptoms a girl has and how severe they are, doctors may recommend
What Causes Triple X Syndrome?
Girls who have triple X syndrome are born with it. It's called triple X because
they have an extra X chromosome in most or all of their cells.
Usually, a person has 46 chromosomes in each cell, divided into 23 pairs, which
includes two sex chromosomes. Half of the chromosomes are inherited from the father
and the other half from the mother. The chromosomes contain genes, which determine
an individual's characteristics, such as eye color and height. Girls typically have
two X chromosomes (or XX), but girls with triple X syndrome have an extra X chromosome
Triple X is not caused by anything the parents did or did not do. The disorder
is a random error in cell division. This error can happen before conception in the
reproductive cells of the mother or the father, or early in the embryo's development.
When the extra chromosome is due to incorrect cell division in the embryo, a girl
may have a mosaic form of triple X syndrome. This means some of the
cells have an extra X chromosome, but not all do. Girls with this type of triple X
syndrome usually have fewer symptoms.
What Are the Signs & Symptoms of Triple X Syndrome?
Noticeable signs and symptoms of triple X syndrome can vary greatly. Some girls
have no obvious signs, while others have mild symptoms. Occasionally, the disorder
causes significant problems.
Girls with triple X syndrome can have some or all of these physical symptoms to
taller than average height (usually, very long legs)
low muscle tone, or muscle weakness (called hypotonia)
very curved pinky finger (called clinodactyly)
widely spaced eyes (called hypertelorism)
Girls with triple X syndrome also may have delayed development of their social,
language, and learning skills. They also can have problems with reading and understanding
math, and may have mild delays with coordination.
Less often, girls might have abnormal development of the ovaries and/or uterus,
a delayed or early onset of puberty, and problems with fertility. Rarely, a girl may
develop kidney and heart problems, frequent urinary
tract infections (UTIs), stomach pain, constipation, flat feet, and an abnormally
shaped chest wall and ribcage (called pectus
How Is Triple X Syndrome Diagnosed?
Many girls with triple X syndrome are healthy and have no obvious symptoms. So
sometimes the condition isn't diagnosed or is only found while a doctor checks for
a different issue.
Triple X syndrome often is found because parents talked with a doctor about concerns
with their daughter's development. This can help girls receive a diagnosis early.
Research has shown that early interventions and treatments are more effective.
To diagnose triple X syndrome, a blood sample is checked for the presence of the
extra X chromosome. Before birth, the condition can be found through a chromosomal
analysis. Testing is done on the fluid surrounding the fetus, tissue from the placenta,
or the blood from the mother.
How Is Triple X Syndrome Treated?
There is no cure for triple X syndrome, but treatments can help with specific symptoms.
Finding services early is important and can greatly increase their ability to help
your daughter live a healthier, more productive life. Options vary greatly depending
on how old a girl was when she was diagnosed, whether she has noticeable symptoms,
and the severity of those symptoms.
Treatments can include:
Regular doctor visits. At periodic visits, a doctor can monitor
a girl's development for delays, social and language disabilities, or health problems
and treat these promptly.
Early intervention services. It can be very helpful and often
more effective for a girl to have speech,
developmental therapy in the early months of life or as soon as concerns are identified.
Speech therapy and physical therapy can improve your daughter's speaking, reading,
and writing skills and can help increase strength and coordination. Occupational therapy
and behavioral therapy can help your daughter develop more confidence and interact
better with other children.
Counseling. The whole family can benefit from counseling to better
understand triple X syndrome and help a girl who has it to live a productive life.
Early inventions should be considered at infancy for physical therapy, at 15 months
for speech delay, at 1st grade for reading and learning issues, and at 3rd grade for
anxiety or depression.
Girls with triple X syndrome can develop speech, learning, or social challenges
at a young age. This can make them more likely to have low self-esteem
and lead to school or social problems.
If your daughter has trouble making friends or struggles at school, talk to your
doctor or the principal or school counselor. Counseling and therapy can teach your
daughter practical skills to help her make friends and feel more confident in school,
and educational services can help your daughter succeed academically.
It's important to speak to your doctor if you have any concerns about your daughter's
physical and emotional development.