Marfan Syndrome

Reports from the MHC data base

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

Codes:

ICD-10: 87.4
ORPHA: 558

Estimated occurrence

1:5 000 - 10 000 inhabitants

Etiology

Marfan syndrome is caused by a genetic mutation, usually on chromosome 15. This gene is responsible for production of fibrillin, a protein essential to the formation of connective tissue. It is inherited as an autosomal dominant trait. Spontaneous mutations are also known to occur.

General symptoms

Individuals with Marfan syndrome are often extremely tall. They may have problems associated with various body parts. Most common are muscular and skeletal problems, joint laxity, dilatation (widening) of aorta, mitral valve problems, vision impairment and some times pulmonary disorders.

Orofacial/odontological symptoms

Common symptoms include a high, sometimes narrow palate, and lack of space for teeth in the jaws. Snoring and an increased risk of sleep apnea may occur. The temperomandibular joint is often affected, and there may be instability of the joint-capsules. Tooth grinding implies extra pressure on the jaw, which may increase the joint problems. For the same reason, the patient may have difficulty opening his or her mouth wide and for a long time, as may be necessary, for example, at dental appointments.

Orofacial/odontological treatment

  • Extra prophylactic dental care may be relevant in order to prevent the need for dental treatment that would be very demanding for these patients because of their jaw problems. In some patients there is a risk of endocarditis if oral bacteria gain access to the blood stream. Improved oral and especially gingival health reduces this risk.
  • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
  • In cases of temporomandibular joints disorders, this should be investigated and appropriate treatment thereafter prescribed.
  • Problems associated with snoring and sleep apnea should be followed up by a physician.
  • 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 08:09