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Disease Profile

Cardiac-Valvular 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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.

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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)

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

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 230851

Definition
Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.

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
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 susceptibility
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
Ptosis
Drooping upper eyelid
0000508
Soft, doughy skin
0001027
Strabismus
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 developmental delay
0001263
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Intellectual disability, moderate
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
Seizure
0001250
Severe conductive hearing impairment
0012717
Short stature
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 scoliosis
0002944
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
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

    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.