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|
|Abnormality of the cerebral vasculature||
Abnormality of the cerebral blood vessels
|Angioid streaks of the fundus||0001102|
Narrowing of an artery
|Excessive wrinkled skin||0007392|
Noninflammatory retina disease
|Thickened nuchal skin fold||
Thickened skin folds of neck
Thickened skin over the neck[ more ]
|30%-79% of people have these symptoms|
Easy bruising[ more ]
Nearsightedness[ more ]
|5%-29% of people have these symptoms|
|Abnormal endocardium morphology||0004306|
|Abnormality of the thorax||
Abnormality of the chest
Narrowing and hardening of arteries
Whites of eyes are a bluish-gray color
Abnormal deposits of calcium in the brain
Wider than typical opening or gap
Paralysis or weakness of one side of body
Increased palatal height[ more ]
Stretchable skin[ more ]
Joints move beyond expected range of motion
|Mitral valve prolapse||0001634|
Multiple fatty lumps
Too much calcium deposited in kidneys
Skin itching[ more ]
Firm lump under the skin
Growth of abnormal tissue under the skin[ more ]
|Sudden cardiac death||
Premature sudden cardiac death
|Telangiectasia of the skin||0100585|
Loss of eyesight
Poor vision[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the mouth||
|Congestive heart failure||
Heart failure[ more ]
|Reduced visual acuity||
Decreased clarity of vision
Renal failure in adulthood[ 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.
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.
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 it recommended to take an antibiotic or other medication before a dental procedure with pseudoxanthoma elasticum? See answer
My mother was diagnosed with pseudoxanthoma elasticum, but no one in the previous three generations of my father's family have been diagnosed with this condition. Now I have a baby who seems to have lumps which look like pseudoxanthoma elasticum on his neck, but no one in the previous three generations of my husband's family have been diagnosed with this condition. My questions are:
1. How can I know whether or not my husband or I are unaffected carriers? What type of blood test do I need to have?
2. Several websites say that pseudoxanthoma elasticum is untreatable. Is that true? Can the progression of this condition be slowed down or managed?
3. My baby was only 3-4 months old when I saw the yellow lumps on his neck, but I read that the average age for the onset of symptoms is in the teens. Is it possible for a baby to show symptoms? See answer