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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 75392
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.
EDS type VIII is the rarest form of EDS and is characterized by severe early- onset periodontal disease in conjunction with the presence of plaques of scar tissue in the pretibial zones (hyperpigmented atrophic scars). The periodontitis is generalized with early-onset (appearing at puberty) and may lead to loss of teeth before 30 years of age, and alveolar bone deterioration. The joint hyperlaxity and cutaneous hyperelasticity are variable. Most patients have short stature and orofacial characteristics such as micrognathia, gingival hyperplasia with varying degrees of hyperkeratosis, and agenesis or microdontia of multiple teeth, accompanied sometimes by increased sensitivity to infection.
The syndrome appears to be genetically heterogeneous. However, analysis of several patients has led to the identification of a potential gene locus on chromosome 12p13.
The syndrome is transmitted in an autosomal dominant manner.
Management and treatment
There is no specific treatment for the disease but symptomatic management of the dental anomalies is essential.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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