Rett Syndrome

Reports from the MHC data base

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

Codes:

ICD-10: F84.2
ORPHA: 778

Estimated occurrence

1:10 000 girls/women

Etiology

Not entirely clarified. A mutation in the MECP2 gene on the X-chromosome (Xq28) can be identified in 80 percent. The gene mutation affects the development of the nervous system.

General symptoms

Symptoms present around the age of 1 to 2 years. The symptoms appear in four stages: Early Onset Phase (I), Rapid Destructive Phase (II), Plateau Phase (III) and Late Motor Deterioration Phase (IV). The syndrome includes inability to perform voluntary movements (apraxia), epilepsy, motor and intellectual impairment and difficulties with the regulation of breathing, blood pressure and pulse. Scoliosis is common. Repetitive hand or hand and mouth movements are characteristic for the diagnosis.

Orofacial/odontological symptoms

Severe oral motor impairment resulting in eating problems, drooling, and difficulties with oral hygiene. Most of these girls do not learn to speak. The majority have severe tooth grinding, resulting in tooth wear, and many also have involuntary tongue movements. Overbite and an open bite in the area of the front teeth are more common than in the general population.

Orofacial/odontological treatment

    • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
    • Tooth grinding should be followed up, and be managed with a splint when necessary.
    • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
    • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment center.
    • Communication skills training is frequently essential.
    • Oral motor training and stimulation may be relevant.

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: 2017-09-13 08:23