National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Periodontal Ehlers-Danlos syndrome


Other Names:
Ehlers-Danlos syndrome, type VIII (formerly); EDS VIII (formerly); EDS8 (formerly); Ehlers-Danlos syndrome, type VIII (formerly); EDS VIII (formerly); EDS8 (formerly); EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE; Ehlers-Danlos syndrome type 8 (formerly); EDS VIII; Ehlers-Danlos syndrome type 8; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; pEDS See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 75392

Definition
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

Clinical description
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.

Etiology
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.

Genetic counseling
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.
Last updated: 6/1/2006

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Atrophic scars
Sunken or indented skin due to damage
0001075
Hypermelanotic macule
Hyperpigmented spots
0001034
Periodontitis 0000704
Short stature
Decreased body height
Small stature
[ more ] 		0004322
30%-79% of people have these symptoms
Agenesis of permanent teeth
Failure of development of permanent teeth
Missing teeth
[ more ] 		0006349
Atrophy of alveolar ridges
Shrinking of gum ridges
0006308
Gingival overgrowth
Gum enlargement
0000212
Hyperextensible skin
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] 		0000974
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Microdontia
Decreased width of tooth
0000691
5%-29% of people have these symptoms
Arachnodactyly
Long slender fingers
Spider fingers
[ more ] 		0001166
Generalized joint laxity
Hypermobility of all joints
0002761
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Premature loss of primary teeth
Early loss of baby teeth
Premature loss of baby teeth
[ more ] 		0006323
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] 		0002719
Scoliosis 0002650
Tall stature
Increased body height
0000098
Percent of people who have these symptoms is not available through HPO
Alveolar bone loss around teeth 0410027
Autoimmunity
Autoimmune disease
Autoimmune disorder
[ more ] 		0002960
Autosomal dominant inheritance 0000006
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Gingival bleeding
Bleeding gums
0000225
Gingival recession 0030816
Hoarse voice
Hoarseness
Husky voice
[ more ] 		0001609
Inguinal hernia 0000023
Intestinal perforation 0031368
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] 		0001388
Palmoplantar cutis laxa
Excessive wrinkled skin of palms and soles
Increased wrinkles of palms and soles
Wrinkled palms and soles
Wrinkled skin of hands and feet
[ more ] 		0007517
Poor wound healing 0001058
Premature loss of teeth
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ] 		0006480
Soft skin 0000977
Thin skin 0000963
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Periodontal Ehlers-Danlos syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

  • The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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