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Disease Profile
Cardiac-Valvular Ehlers-Danlos syndrome
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.
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Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
EDS, cardiac valvular type; EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM; Ehlers-Danlos syndrome, cardiac valvular type;
Categories
Congenital and Genetic Diseases; Heart Diseases; Skin Diseases
Summary
Orpha Number: 230851
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 | ||
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] |
0000974 |
Mitral regurgitation | 0001653 | |
30%-79% of people have these symptoms | ||
Absent phalangeal crease | 0006109 | |
Aortic regurgitation | 0001659 | |
Aortic root aneurysm |
Bulge in wall of root of large artery that carries blood away from heart
|
0002616 |
Atrophic scars |
Sunken or indented skin due to damage
|
0001075 |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 |
Genu recurvatum |
Back knee
Knee hyperextension
[ more ] |
0002816 |
Genu valgum |
Knock knees
|
0002857 |
Hallux valgus |
Bunion
|
0001822 |
Hypermobility of distal interphalangeal joints |
Increased mobility of outermost hinge joint
|
0006201 |
Inguinal hernia | 0000023 | |
Long fingers | 0100807 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Pectus excavatum |
Funnel chest
|
0000767 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Poor wound healing | 0001058 | |
Drooping upper eyelid
|
0000508 | |
Soft, doughy skin | 0001027 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Thin skin | 0000963 | |
Tricuspid regurgitation | 0005180 | |
5%-29% of people have these symptoms | ||
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Bulbous nose | 0000414 | |
Calcaneovalgus deformity | 0001848 | |
Disproportionate tall stature | 0001519 | |
Dyspnea |
Trouble breathing
|
0002094 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Global |
0001263 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
IQ between 34 and 49
|
0002342 | |
Kyphoscoliosis | 0002751 | |
Left ventricular hypertrophy | 0001712 | |
Mitral valve prolapse | 0001634 | |
Myopic astigmatism | 0500041 | |
Pulmonary insufficiency | 0010444 | |
Recurrent shoulder dislocation |
Multiple shoulder dislocation
|
0031610 |
Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] |
0001852 |
0001250 | ||
Severe conductive hearing impairment | 0012717 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Tendon rupture |
Rupture of tendons
Ruptured tendon
[ more ] |
0100550 |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
Thoracolumbar |
0002944 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Soft skin | 0000977 |
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
-
Ehlers-Danlos Society
PO Box 87463
Montgomery Village, MD 20886
Telephone: 410-670-7577
E-mail: [email protected], https://www.ehlers-danlos.com/eds-helpline/
Website: https://www.ehlers-danlos.com/ -
Ehlers-Danlos Support UK
PO Box 748
Borehamwood , WD6 9HU United Kingdom
Toll-free: 0800 907 8518 (in the UK)
Telephone: 0208 736 5604
E-mail: [email protected]
Website: https://www.ehlers-danlos.org/ -
The Zebra Network
1122 Kenilworth Drive
Suite 307
Towson, MD 21204
Telephone: 410-825-0995
E-mail: [email protected]
Website: https://thezebranetwork.org/
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.