Turner Syndrome

Reports from the MHC data base

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

Codes

ICD-10: Q69.9
ORPHA: 881

Estimated occurrence

1:2 000 girls born

Etiology

Girls with Turner syndrome are either missing one X chromosome (45,X) or par t of it. Sometimes parts of the body have normal cells that contain two X chromosomes, while other cells are missing one X chromosome (mosaicism). There are also variants in which girls may have three X chromosomes, two of which are normal length and the third shor ter. Why this chromosomal aberration occurs is not known today. Turner syndrome is not hereditary.

General symptoms

Short stature. Many of these girls have loss of ovarian function and they often do not enter puberty. Cardiac defects are common. Often there are frequent ear infections. Learning disability and behavioral problems can sometimes occur.

Orofacial/odontological symptoms

Characteristic facial features are associated with the diagnosis. In contrast to skeletal development, which tends to be delayed by more than two years, dental development tends to be early, and teeth may erupt earlier than normal. Teeth may have shape aberrations. The most common anomalies relate to the proportions between the root and the crown of the teeth, with relatively short roots on the incisors, canines and premolars. Teeth may be small, with thin enamel. There are reports of arched palate and a small lower jaw. Various malocclusions may occur, with a particular frequency of post normal bite and cross bite. Malocclusions appear early. Feeding problems are common during the first years of life. Some girls have difficulties with speech and language acquisition. Untreated, women with the diagnosis can have a high pitched voice.

Orofacial/odontological treatment

  • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
  • A specialist in pediatric dentistry or orthodontia may be a useful resource in this respect, and should also be consulted if treatment with growth hormone is being considered.
  • There are special intervention programs for children with Turner syndrome, with a focus on odontology. Tooth age determination is recommended as part of the diagnostic workup. Anomalies beyond 2SD indicate that the child should be referred to a physician for fur ther examination.
  • Children with eating disorders often required extra dental care, including assistance with oral hygiene and fluoride treatments.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
  • Speech and language difficulties should be diagnosed and treated by a speech therapist.
  • 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: 2017-09-13 08:37