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 | 0001704 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Bowel diverticulosis | 0005222 | |
Ectopia lentis | 0001083 | |
Hyperextensibility at elbow | 0010485 | |
Hyperextensibility of the finger joints |
Finger joint hyperextensibility
Hyperextensible digits
Hyperextensible finger
[ more ]
|
0001187 |
Hyperextensibility of the knee | 0010500 | |
Infantile muscular hypotonia |
Decreased muscle tone in infant
|
0008947 |
Irregularly spaced teeth |
Irregular dental spacing
Variability of spacing between teeth
[ more ]
|
0006316 |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ]
|
0001373 |
Lop ear | 0000394 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Narrow maxilla |
Decreased breadth of upper jaw bones
Decreased width of upper jaw bones
Narrow upper jaw bones
[ more ]
|
0002010 |
Premature birth following premature rupture of fetal membranes | 0005100 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Soft skin | 0000977 |
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.
Related 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.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis is extensive but primarily includes other EDS types (i.e., hypermobile, cardiac-valvular, classical-like type 1, classical-like type 2, spondylodysplastic, vascular, arthrocalasia, kyphoscoliotic, dermatosparaxis EDS), Loeys-Dietz syndromes, Marfan syndrome, cutis laxa, and other inherited connective tissue disorders.
Visit the
Orphanet disease page
for more information.
|
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.
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.
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.
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.
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Is there a proanthocyanidin that is particularly helpful for Ehlers-Danlos syndrome, classic type? I want to support my body's ability to make stronger collagen. See answer