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 metabolism/homeostasis||
Metabolism abnormality[ more ]
Tear in inner wall of large artery that carries blood away from heart
|Atypical scarring of skin||
Impaired gait[ more ]
|Generalized joint laxity||
Hypermobility of all joints
Increased joint mobility[ more ]
Joints move beyond expected range of motion
Round back[ more ]
|Mitral valve prolapse||0001634|
Nearsightedness[ more ]
Low muscle tone, in neonatal onset
Abnormal curving of the spine
|30%-79% of people have these symptoms|
|Abnormality of the hip bone||
Abnormality of the hips
Stretchable skin[ more ]
Cornea of eye less than 10mm in diameter
Noninflammatory retina disease
|Spontaneous rupture of the globe||0010727|
Bleeding below the skin
Loss of eyesight
Poor vision[ more ]
|5%-29% of people have these symptoms|
Clubfoot[ more ]
|Percent of people who have these symptoms is not available through HPO|
Long slender fingers
Spider fingers[ more ]
Whites of eyes are a bluish-gray color
Easy bruising[ more ]
|Congestive heart failure||
Heart failure[ more ]
|Decreased fetal movement||
Less than 10 fetal movements in 12 hours
|Decreased pulmonary function||
Decreased lung function
Impaired lung function[ more ]
Overcrowding of teeth[ more ]
|Depressed nasal bridge||
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root[ more ]
|Disproportionate tall stature||0001519|
Prominent eye folds[ more ]
Decreased muscle tone
Low muscle tone[ more ]
Recurrent joint dislocations[ more ]
Loosejointedness[ more ]
Low or weak muscle tone
|Palmoplantar cutis laxa||
Excessive wrinkled skin of palms and soles
Increased wrinkles of palms and soles
Wrinkled palms and soles
Wrinkled skin of hands and feet[ more ]
Flat foot[ more ]
|Premature rupture of membranes||0001788|
Increased body height
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.
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.