Fragile X Syndrome

Overview of inherited cause of intellectual disability.

Reviewed by Dr Kola Tytler MBBS CertHE MBA MRCGP (General Practitioner)
Last reviewed: 21 October 2025
GeneticsPaediatrics

Clinical Guidelines

Practice Guidelines for Molecular Diagnosis of Fragile X Syndrome (Association for Clinical Genomic Science, UK)
National
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics
Local
ACOG Committee Opinion No. 691: Carrier Screening for Genetic Conditions
Local
Consensus Statement of the Indian Academy of Pediatrics on Fragile X Syndrome
Local
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders
Local
Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors
Local
Health Supervision for Children With Fragile X Syndrome (AAP Clinical Report, reaffirmed 2023)
Local
NSGC Practice Guideline: Fragile X Syndrome (September 2012 - reclassified 2017)
Local