Fragile X-Syndrome

Reports from the MHC data base

Report from the Questionnaire (PDF)
Report from the Observation Chart (PDF)

Codes

ICD-10: Q99.2
ORPHA: 908

Estimated occurrence

1:5,000 boys and 1:4,000 girls have the genetic mutation that causes Fragile X syndrome. All boys, but only 20 percent of the girls, who have the mutation also have the symptoms.

Etiology

An unstable DNA segment on the long arm of the X chromosome. Girls almost always have less severe symptoms, since females have two X chromosomes.

General symptoms

Delayed psychomotor development. Varying degrees of intellectual disability. Many of these children have concentration problems and poor endurance. There may be some autism spectrum or autism-like features, and there is an increased frequency of epilepsy. There may be a cardiac defect, mitrialis valve prolapse, usually unproblematic.

Orofacial/odontological symptoms

Characteristic facial features are associated with the diagnosis. These features are less pronounced in children. Many have malocclusions. Speech, language and communication difficulties are frequent, as are eating and drooling problems. Speech is often rapid. Mouth hypersensitivity may occur, and be problematic in terms, for instance, of feeding and tooth brushing.

Orofacial/odontological treatment

  • Early contact with dental services for intensified prophylactic and oral hygiene information is essential.
  • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
  • Orofacial therapy and oral motor skills training in cases of difficulties with eating, speech or drooling.
  • Speech, language and communication training are often required.
  • When treating medically compromised patients always contact their doctors for medical advice.

Sources

  • The rare disease database of the Swedish National Board of Health and Welfare.
  • The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
  • The Documentation from the Ågrenska national competence centre for rare diseases.
Updated: 2017-09-12 14:18