Noonan Syndrome

Reports from the MHC data base

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

Codes:

ICD-10: Q87.1E
ORPHA: 648

Estimated occurrence

40-100:100,000 live births

Etiology

Autosomal dominant hereditary trait. The mutation is known in 75 % of cases.

General symptoms

Most children born with Noonan syndrome have some kind of cardiac defect. Short stature – adult individuals with Noonan syndrome are generally about 15 cm shorter than predicted height. Growth hormone production deficit. Late onset puberty is common, and in many boys the testicles remain undescended. Some individuals have delayed psycho-motor development and intellectual disabilities. There may be some increased tendency to bleed, but this is not severe.

Orofacial/odontological symptoms

Characteristic features are associated with the diagnosis. Feeding difficulties are common, particularly during the first years of life. Some children have a great deal of vomiting. Owing to eating and swallowing difficulties, some children with Noonan syndrome need to eat often, and require a special diet. This may lead to an increased risk of tooth decay. High palate, late teething and small jaws with crowded teeth have all been reported.

Orofacial/odontological treatment

  • Children with eating disorders often require extra dental care, including assistance with oral hygiene and fluoride treatments. However, the dental services should not advise on eating difficulties.
  • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
  • An increased tendency to bleed may result in complications when teeth are extracted.
  • Oral motor training and stimulation may be relevant in cases of eating difficulties, speech impairment and drooling.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment center.
  • When treating medically compromised patients always contact their doctors for medical advice (bleeding problems, heart diseases etc).

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 08:17