Fragile X syndrome differential diagnosis

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.

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.
• Klinefelter: Presents with mild intellectual disabilities, tall stature and under-developed genitals.
• Lujan Syndrome: Presents with intellectual disabilities, tall/thin body, large head, behavioral abnormalities and hypotonia.

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