Developmental
X-Linked
Fragile X Syndrome
The most common inherited cause of intellectual disability and autism spectrum disorder. More severe in males.
Genetic Information
Associated Gene
FMR1
Inheritance Pattern
X-Linked
Carrier Frequency
1 in 250 females, 1 in 800 males
Signs and Symptoms
- Intellectual disability
- Autism spectrum features
- Long face, large ears
- Hyperactivity and anxiety
Treatment and Management
Currently, only supportive care is available for this condition.
Educational support, behavioral therapy, symptom management
How Is It Inherited?
This condition follows an X-linked inheritance pattern. This means:
- The gene is located on the X chromosome
- Males are typically more severely affected (they have only one X)
- Carrier females may have mild symptoms or be unaffected
Medical Reference
For detailed clinical information, visit the GeneReviews article:
GeneReviews: Fragile X SyndromeQuick Facts
Category
Developmental
Inheritance
X-Linked
Gene(s)
FMR1
Treatable
No
Have Questions?
Speak with a board-certified genetic counselor to learn more about this condition and what it means for you.
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Disclaimer: This information is for educational purposes only
and should not replace professional genetic counseling. If you have questions
about genetic test results, please consult with a certified genetic counselor.