The following report from the MHC-database is based on the latest version of the Mun-H-Center Observation Chart that has been in use since 2008. Please note, that this report exclude children younger than 3 years.
Reports based on the original forms (1996-2008) are presented at the bottom of this page - below the description of the diagnosis
Estimated occurrence
The occurrence of Marfan syndrome is estimated to be between 50 and 80 individuals per million 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 diseases database of the Swedish National Board of Health and Welfare.
The MHC database – The database of Mun-H-Center on orofacial manifestations associated with rare diseases.
The newsletter of the Ågrenska Center.
