Fragile X syndrome differential diagnosis

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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.
  • 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.

References

[1]

  1. Saldarriaga W, Tassone F, González-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R (2014). "Fragile X syndrome". Colomb Med (Cali). 45 (4): 190–8. PMC 4350386. PMID 25767309.