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| Disease found: | Fragile X Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Inherited intellectual disability syndrome caused by CGG trinucleotide expansion repeat in the FMR1 gene, affecting the fragile X mental retardation protein (FMRP), a protein needed for synaptic development. [more] |
| Signs and Symptoms: | Characteristically affects males, causing moderate to pronounced intellectual disability, as well as physical features including a long face, prominent ears, loose connective tissue, macroorchidism, flat feet. Female carriers may display mild intellectual disability [more]. |
| Diagnosis: | Identification of the CGG expansion >200 repeats is diagnostic of Fragile X [more]. This test is available as a single-gene test. |
| Treatment: | Treatment is primarily directed to the patient’s specific presenting symptoms. Behavioral interventions and developmental support should begin early and can be tailored to problems that arise, such as sleep or toilet issues [more]. Multimodal therapy interventions can be beneficial. |
| Clinical Management: | Defective connective tissue places patients at higher risk for aortic root dilation, mitral valve prolapse, hernia, and joint dislocation; annual cardiac exam with low threshold for echocardiogram [more]. Children have increased risk of otitis media; ear tubes may be needed. Children may struggle to stay on an appropriate growth curve; routine nutritional and developmental surveillance is recommended [more]. Routine eye exams should begin by age 4. |
| Referral: | The National Fragile X Foundation maintains a database of sites with expertise in Fragile X care; they currently identify 34 hospitals in the US. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Many trials are currently recruiting. |