Fragile X syndrome differential diagnosis
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
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Overview
Fragile X syndrome must be differentiated from other diseases that cause mental retardation, change in stature, and increase in testicular size, such as sotos syndrome, Prader-willi syndrome and klinefelter syndrome.
Differential Diagnosis
Fragile X syndrome must be differentiated from Sotos syndrome, Prader-willi syndrome, Lujan syndrome, Learning difficulties, Autism spectrum disorder and Klinefelter syndrome, which are the common causes of intellectual disabilities.
- Sotos syndrome: Presents with intellectual disabilities, elongated face and tall stature.
- Prader-willi syndrome: Presents with intellectual disabilities, poor tone, distinctive facial features (almond shaped eye with narrowing of head at temples) and under developed genitals.