Symptomatic form of fragile X syndrome in female carriers
A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability anxiety social phobia selective mutism attention deficit hyperactivity disorder language deficit neurologic signs and symptoms (such as seizures hypotonia and clonus) ophthalmologic anomalies (strabismus refractive errors) and facial dysmorphism (including long face prominent forehead large prominent ears and mandibular prognathism).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Symptomatic form of fragile X syndrome in female carriers?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
National Fragile X Foundation
To serve the entire Fragile X community to live their best lives by providing the knowledge, resources, and tools until, and even after, more effective treatments and a cure are achieved.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.