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||
|80%-99% of people have these symptoms|
'cigarette paper scarring'
Cigarette paper scarring[ more ]
|Generalized joint laxity||
Hypermobility of all joints
Stretchable skin[ more ]
|Soft, doughy skin||0001027|
|30%-79% of people have these symptoms|
Infrequent bowel movements
Tiredness[ more ]
Acid reflux disease
Heartburn[ more ]
Low or weak muscle tone
|Poor wound healing||0001058|
|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 ]
Persistent blue color of hands, feet, or parts of face
|Aortic root aneurysm||
Bulge in wall of root of large artery that carries blood away from heart
Easy bruising[ more ]
Droopy eyelid skin
Extra eyelid skin
Redundant eyelid skin[ more ]
|Dilatation of the cerebral artery||0004944|
|Dislocated radial head||0003083|
Prominent eye folds[ more ]
Dislocation of hip[ more ]
Degenerative joint disease
Flat foot[ more ]
|Piezogenic pedal papules||0025509|
Premature delivery of affected infants
Preterm delivery[ more ]
|Premature rupture of membranes||0001788|
|Prematurely aged appearance||
Precociously senile appearance
|Prolonged bleeding time||0003010|
Rectum protrudes through anus
Clubfoot[ more ]
|1%-4% of people have these symptoms|
|Mitral valve prolapse||0001634|
Decrease in blood pressure upon standing up
|Tricuspid valve prolapse||0001704|
|Percent of people who have these symptoms is not available through HPO|
Whites of eyes are a bluish-gray color
|Hyperextensibility at elbow||0010485|
|Hyperextensibility of the finger joints||
Finger joint hyperextensibility
Hyperextensible finger[ more ]
|Hyperextensibility of the knee||0010500|
|Infantile muscular hypotonia||
Decreased muscle tone in infant
|Irregularly spaced teeth||
Irregular dental spacing
Variability of spacing between teeth[ more ]
Recurrent joint dislocations[ more ]
Nearsightedness[ more ]
Decreased breadth of upper jaw bones
Decreased width of upper jaw bones
Narrow upper jaw bones[ more ]
|Premature birth following premature rupture of fetal membranes||0005100|
Decreased body height
Small stature[ more ]
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
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