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Disease Profile
Classical 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.
1-9 / 100 000
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)
Classic Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 1 (formerly); Ehlers-Danlos syndrome type 2 (formerly);
Categories
Connective tissue diseases
Summary
Classical Ehlers-Danlos
Symptoms
- Smooth, velvety skin that is highly elastic (stretchy) and bruises easily
- Abnormal wound healing that may result in wide, atrophic scars (flat and/or depressed scars)
- Joint hypermobility that leads to frequent dislocations and subluxations (partial dislocations)
- Molluscoid pseudotumors (calcified hematomas over pressure points such as the elbow)
- Subcutaneous spheroids (fat-containing cysts that are often found on the forearms and/or shins)
Hypotonia - Delayed motor development
Tissue fragility that may lead to hernias, rectal prolapse, and other complications- Cardiovascular abnormalities such as mitral valve prolapse or aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body)
- Pregnancy may be complicated by premature rupture of membranes
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 | ||
Cigarette-paper scars |
'cigarette paper scarring'
Cigarette paper scarring
[ more ] |
0001073 |
Fragile skin |
Skin fragility
|
0001030 |
Generalized joint laxity |
Hypermobility of all joints
|
0002761 |
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] |
0000974 |
Soft, doughy skin | 0001027 | |
Striae distensae |
Stretch marks
|
0001065 |
30%-79% of people have these symptoms | ||
Chronic constipation |
Infrequent bowel movements
|
0012450 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Muscle spasm | 0003394 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Nausea | 0002018 | |
Osteopenia | 0000938 | |
Poor wound healing | 0001058 | |
Pulp stones | 0003771 | |
Vomiting |
Throwing up
|
0002013 |
5%-29% of people have these symptoms | ||
Abnormal cornea morphology | 0000481 | |
Abnormality of the temporomandibular joint |
Abnormality of the jaw joint
Deformity of the jaw joint
Malformation of jaw joint
[ more ] |
0010754 |
Acrocyanosis |
Persistent blue color of hands, feet, or parts of face
|
0001063 |
Aortic root aneurysm |
Bulge in wall of root of large artery that carries blood away from heart
|
0002616 |
Arterial dissection | 0005294 | |
Arterial rupture | 0025019 | |
Arteriovenous fistula | 0004947 | |
Arthralgia |
Joint pain
|
0002829 |
Bladder diverticulum | 0000015 | |
Blepharochalasis | 0010749 | |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Cervical insufficiency | 0030009 | |
Dermatochalasis |
Baggy eyes
Droopy eyelid skin
Extra eyelid skin
Redundant eyelid skin
[ more ] |
0010750 |
Dilatation of the cerebral artery | 0004944 | |
Dislocated radial head | 0003083 | |
Ecchymosis | 0031364 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Hiatus hernia |
Stomach hernia
|
0002036 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Incisional hernia | 0004872 | |
Inguinal hernia | 0000023 | |
Joint swelling | 0001386 | |
Limb pain | 0009763 | |
Molluscoid pseudotumors | 0000993 | |
Motor delay | 0001270 | |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
Patellar dislocation |
Dislocated kneecap
|
0002999 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Phalangeal dislocation | 0006243 | |
Piezogenic pedal papules | 0025509 | |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Premature rupture of membranes | 0001788 | |
Prematurely aged appearance |
Precociously senile appearance
|
0007495 |
Prolonged bleeding time | 0003010 | |
Rectal prolapse |
Rectum protrudes through anus
|
0002035 |
0002650 | ||
Shoulder dislocation | 0003834 | |
Subcutaneous spheroids | 0025014 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Umbilical hernia | 0001537 | |
Uterine prolapse |
Sagging uterus
|
0000139 |
1%-4% of people have these symptoms | ||
Headache |
Headaches
|
0002315 |
Mitral regurgitation | 0001653 | |
Mitral valve prolapse | 0001634 | |
Orthostatic hypotension |
Decrease in blood pressure upon standing up
|
0001278 |
Tricuspid valve prolapse
Cause More than 90% of people affected by classical EDS have an identifiable
In rare cases, mutations in the genes encoding type I collagen (COL1A1 gene) can be found in people with classical EDS.[3] Diagnosis A diagnosis of classical EDS is typically based on the presence of characteristic signs and symptoms. More than 90% of classical EDS patients have
Collagen typing performed on a skin biopsy may be recommended if genetic testing is not available or inconclusive. Transmission electron microscopy (TEM) (a very powerful microscopy) findings of collagen flowers on skin Absence of these findings does not rule-out the diagnosis of classical EDS; however, alternative diagnoses should be considered in the absence of a type V collagen gene mutation or electron microscopy findings. Testing Resources
Treatment The treatment of classical EDS varies based on the signs and symptoms present in each person. For example, children with
Please speak to your healthcare provider if you have any questions about your personal medical management plan. Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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
Social Networking Websites
Learn moreThese 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. Where to Start
In-Depth Information
References
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