Orpha Number: 75392
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|
Sunken or indented skin due to damage
Decreased body height
Small stature[ more ]
|30%-79% of people have these symptoms|
|Agenesis of permanent teeth||
Failure of development of permanent teeth
Missing teeth[ more ]
|Atrophy of alveolar ridges||
Shrinking of gum ridges
Stretchable skin[ more ]
Joints move beyond expected range of motion
Decreased width of tooth
|5%-29% of people have these symptoms|
Long slender fingers
Spider fingers[ more ]
|Generalized joint laxity||
Hypermobility of all joints
Little lower jaw
Small lower jaw[ more ]
|Premature loss of primary teeth||
Early loss of baby teeth
Premature loss of baby teeth[ more ]
Frequent, severe infections
Increased frequency of infection
Predisposition to infections
Susceptibility to infection[ more ]
Increased body height
|Percent of people who have these symptoms is not available through HPO|
|Alveolar bone loss around teeth||0410027|
Autoimmune disorder[ more ]
Whites of eyes are a bluish-gray color
Easy bruising[ more ]
Husky voice[ more ]
Loosejointedness[ more ]
|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 ]
|Poor wound healing||0001058|
|Premature loss of teeth||
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss[ 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.
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.
NORD RareLaunch® Workshops
December 1, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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