Orpha Number: 230851
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 | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ]
|
0000974 |
| Mitral regurgitation | 0001653 | |
| 30%-79% of people have these symptoms | ||
| Absent phalangeal crease | 0006109 | |
| Aortic regurgitation | 0001659 | |
| Aortic root aneurysm |
Bulge in wall of root of large artery that carries blood away from heart
|
0002616 |
| Atrophic scars |
Sunken or indented skin due to damage
|
0001075 |
| Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ]
|
0000978 |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
| Genu recurvatum |
Back knee
Knee hyperextension
[ more ]
|
0002816 |
| Genu valgum |
Knock knees
|
0002857 |
| Hallux valgus |
Bunion
|
0001822 |
| Hypermobility of distal interphalangeal joints |
Increased mobility of outermost hinge joint
|
0006201 |
| Inguinal hernia | 0000023 | |
| Long fingers | 0100807 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Poor wound healing | 0001058 | |
|
Drooping upper eyelid
|
0000508 | |
| Soft, doughy skin | 0001027 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Thin skin | 0000963 | |
| Tricuspid regurgitation | 0005180 | |
| 5%-29% of people have these symptoms | ||
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| Bulbous nose | 0000414 | |
| Calcaneovalgus deformity | 0001848 | |
| Disproportionate tall stature | 0001519 | |
| Dyspnea |
Trouble breathing
|
0002094 |
| Fatigue |
Tired
Tiredness
[ more ]
|
0012378 |
| Global |
0001263 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
|
IQ between 34 and 49
|
0002342 | |
| Kyphoscoliosis | 0002751 | |
| Left ventricular hypertrophy | 0001712 | |
| Mitral valve prolapse | 0001634 | |
| Myopic astigmatism | 0500041 | |
| Pulmonary insufficiency | 0010444 | |
| Recurrent shoulder dislocation |
Multiple shoulder dislocation
|
0031610 |
| Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ]
|
0001852 |
| 0001250 | ||
| Severe conductive hearing impairment | 0012717 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Tendon rupture |
Rupture of tendons
Ruptured tendon
[ more ]
|
0100550 |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
| Thoracolumbar |
0002944 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
| Soft skin | 0000977 | |
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.
