Ehlers-Danlos Syndrome

Reports from the MHC data base

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

Codes

ICD-10: Q79.6
ORPHA: 90309, 285, 286

Estimated occurrence

1:10 000 but a large number of unrecorded cases

Etiology

Autosomal dominant pattern of inheritance. Some people have a genetic trait implying hereditary anomalies that make the collagen fragile. There may also be genetic mutations. Ehlers-Danlos syndrome (EDS) is the name of a group of connective tissue disorders primarily characterized by skin, joint and vascular aberrations. Connective tissue consists of collagen which to a large extent support many parts of the body.

General symptoms

The symptoms will vary depending on the type of EDS. Among the most common symptoms are joint hyper extensibility, weak muscles, chronic pain, skin anomalies, fragile tissue including skin hyper-extensibility and problems with sore healing. Many of these individuals bruise easily, and blood vessel complications may result in problems for individuals with vascular type EDS. Stomach and intestinal problems may also occur.

Orofacial/odontological symptoms

The connective tissue defect may affect the hard tissue of the teeth. Tooth enamel may be partly missing, or the enamel may separate from the underlying dentine. The shape of the teeth may be abnormal, and the roots may be shorter than normal. Early, rapid periodontitis (loosening of the teeth) sometimes occurs, with consequent loss of the supporting tissue around the teeth. Since the mucous membranes and connective tissue in the oral cavity are also fragile, tooth extraction or injuries after a trauma may cause an increased risk of bleeding and poor healing, with development of scar tissue. During orthodontic treatment (braces) the teeth can sometimes be moved extremely easy. Hyper mobility of the temporomandibular joints sometimes occurs and may be painful, or result in luxation of the joint. Teeth grinding is common.

Orofacial/odontological treatment

  • It is recommended that all EDS patients have regular dentist appointments with a dentist familiar with the disorder, who can examine the teeth and their supporting tissue both clinically and using X-rays.
  • All dental care should be performed with the greatest possible caution, and in the awareness that local anesthesia may be painful, and less effective than expected.
  • Preventive treatment to counteract caries and periodontitis should be given.
  • If orthodontic treatment will be performed, low forces and long/lifelong retention are recommended. Increased risk for relapse.
  • A splint may counteract teeth grinding and headaches, as well as relieving the pressure on the jaws in cases of temporomandibular joint problems.
  • 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: 2017-09-12 14:13