Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Fragile X syndrome differential diagnosis
Introduction
Overview
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
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: