Skip to Top navigation
Skip to Content

International Gene Clinic


International Gene Clinic - 0845 410 4100

Fragile X Syndrome

Fragile X Syndrome

Fragile X is the commonest form of in-herited learning disorder in males. 


  • Prevalence 1 in 5700 in males with a full FRAXA mutation
  • Males affected
  • Females are usually unaffected carriers.
  • Some individuals carry smaller expansions.

Clinical presentation

Full mutations in males

  • Intelligence quotient is significantly reduced in males to approximately 41.
  • Developmental delay with hypotonia is common
  • Speech and language varies from no speech to mild . Individual rarely can speak fluently.
  • Behaviour is characterised by overactivity, impulsiveness, reduced concentration and poor social interaction often punctuated by aggression. Autistic spectrum features are common.
  • Many children have some degree of minor joint laxity.
  • Macrocephaly
  • Macro-orchidism
  • Large ears

back to top

Make Enquiry

Spam Authentication *
5 + 3=

(Authentication Tool to Prevent Spam)

The Information on this site is for information only, and is not meant to substitute the advice of your own physician or other medical professional.
  Copyright 2011 International Gene Clinic      Contact Us   Links   Disclaimer   Terms & Conditions       Professional Healthcare Websites