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|
Persistent blue color of hands, feet, or parts of face
Dislocations of the elbows
Elbow dislocations[ more ]
Tiredness[ more ]
Dislocation of hip[ more ]
Stretchable skin[ more ]
Joints move beyond expected range of motion
Muscle pain[ more ]
Trouble sleeping[ more ]
Extra bones within cranial sutures
|30%-79% of people have these symptoms|
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat[ more ]
|Decreased nerve conduction velocity||0000762|
Intermittent migraine headaches
Migraine headaches[ more ]
|Nausea and vomiting||0002017|
Degenerative joint disease
Flat foot[ more ]
|5%-29% of people have these symptoms|
|Abnormal palate morphology||
Abnormality of the palate
Abnormality of the roof of the mouth[ more ]
|Abnormality of the menstrual cycle||0000140|
|Abnormality of the wrist||
Abnormalities of the wrists
|Aplasia/Hypoplasia of the abdominal wall musculature||
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles[ more ]
|Ascending tubular aorta aneurysm||
Bulging of wall of large artery located above heart
|Atypical scarring of skin||
Dropped bladder[ more ]
Prominent eye folds[ more ]
Acid reflux disease
Heartburn[ more ]
Red and swollen gums[ more ]
|Limitation of joint mobility||
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion[ more ]
Decreased width of tooth
Breakdown of bone
Pins and needles feeling
Tingling[ more ]
Drooping upper eyelid
Firm lump under the skin
Growth of abnormal tissue under the skin[ more ]
Rupture of tendons
Ruptured tendon[ more ]
Poorly functioning veins
|Percent of people who have these symptoms is not available through HPO|
Recurrent joint dislocations[ more ]
Increased mobility of joints[ more ]
Loosejointedness[ more ]
|Mitral valve prolapse||0001634|
Feature A—systemic manifestations of a more generalized
1. Unusually soft or velvety skin
2. Mild skin hyperextensibility
3. Unexplained striae such as striae distensae or rubrae at the back, groins, thighs, breasts and/or abdomen in adolescents, men or prepubertal women without a history of significant gain or loss of body fat or weight
4. Bilateral piezogenic papules of the heel
5. Recurrent or multiple abdominal hernia(s) (e.g., umbilical, inguinal, crural)
6. Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS
8. Dental crowding and high or narrow palate
9. Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Steinberg sign) on both sides; (ii) positive thumb sign (Walker sign) on both sides
10. Arm span-to-height ≥1.05
11. Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria
12. Aortic root dilatation with Z-score > +2
Feature C—musculoskeletal complications (must have at least 1 of 3 ):
1. Musculoskeletal pain in 2 or more limbs, recurring daily for at least 3 months
2. Chronic, widespread pain for ≥3 months
3. Recurrent joint dislocations or frank joint instability, in the absence of trauma (a or b)
a. Three or more atraumatic dislocations in the same joint or two or more atraumatic dislocations in two different joints occurring at different times
b. Medical confirmation of joint instability at two or more sites not related to trauma
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
The main differential diagnosis is other types of EDS, particularly those characterized by significant connective tissue abnormalities. There is still debate as to whether benign joint hypermobility syndrome (BJHS) is a distinct disorder or part of a clinical continuum. Other diseases that also involve joint laxity are generally easy to distinguished from EDS by their characteristic features.
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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