Orpha Number: 284984
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 | ||
Dilatation of the sinus of Valsalva | 0011645 | |
Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
30%-79% of people have these symptoms | ||
Abnormality of bladder morphology | 0025487 | |
Aortic dissection |
Tear in inner wall of large artery that carries blood away from heart
|
0002647 |
Aortic regurgitation | 0001659 | |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
Arterial dissection | 0005294 | |
Arterial tortuosity | 0005116 | |
Atypical scarring of skin |
Atypical scarring
|
0000987 |
Bifid uvula | 0000193 | |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ]
|
0000978 |
Chronic fatigue |
Chronic extreme exhaustion
|
0012432 |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
Dilatation of the cerebral artery | 0004944 | |
High forehead | 0000348 | |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Inguinal hernia | 0000023 | |
Knee osteoarthritis | 0005086 | |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ]
|
0002076 |
Mitral regurgitation | 0001653 | |
Osteoarthritis of the small joints of the hand | 0004268 | |
Protrusio acetabuli | 0003179 | |
0002650 | ||
Striae distensae |
Stretch marks
|
0001065 |
Umbilical hernia | 0001537 | |
Uterine prolapse |
Sagging uterus
|
0000139 |
5%-29% of people have these symptoms | ||
Abdominal aortic aneurysm | 0005112 | |
Atrial fibrillation |
Quivering upper heart chambers resulting in irregular heartbeat
|
0005110 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cleft roof of mouth
|
0000175 | |
Disproportionate tall stature | 0001519 | |
Dural ectasia | 0100775 | |
Intervertebral disc degeneration | 0008419 | |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
Left ventricular hypertrophy | 0001712 | |
Osteochondritis Dissecans | 0010886 | |
0000939 | ||
Patent ductus arteriosus | 0001643 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
Pectus excavatum |
Funnel chest
|
0000767 |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
Retrognathia |
Receding chin
Receding lower jaw
Weak jaw
Weak chin
[ more ]
|
0000278 |
Spondylolisthesis |
Slipped backbone
Displacement of one backbone compared to another
[ more ]
|
0003302 |
1%-4% of people have these symptoms | ||
Abnormality of the sternum |
Sternal anomalies
|
0000766 |
Aortic tortuosity | 0006687 | |
Atrophic scars |
Sunken or indented skin due to damage
|
0001075 |
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Cervical spine instability | 0010646 | |
0001363 | ||
Dermal translucency | 0010648 | |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
Pneumothorax |
Collapsed lung
|
0002107 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Soft skin | 0000977 | |
Subarachnoid hemorrhage | 0002138 | |
Sudden death | 0001699 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Varicose veins | 0002619 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Cystocele |
Bladder hernia
Dropped bladder
[ more ]
|
0100645 |
Eosinophilic infiltration of the esophagus | 0410151 | |
Exotropia |
Outward facing eye ball
|
0000577 |
Hip osteoarthritis | 0008843 | |
Mitral valve prolapse | 0001634 |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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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