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Disease Profile

Periodontal Ehlers-Danlos syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

Q79.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Ehlers-Danlos syndrome, type VIII (formerly); EDS VIII (formerly); EDS8 (formerly);

Categories

Congenital and Genetic Diseases; Mouth Diseases; Skin Diseases

Summary

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.

Symptoms

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.

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

Organizations

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

    Learn more

    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.