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 |
---|---|---|
5%-29% of people have these symptoms | ||
Aortic regurgitation | 0001659 | |
Brachycephaly |
Short and broad skull
|
0000248 |
Broad face |
Increased breadth of face
Increased width of face
Wide face
[ more ]
|
0000283 |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ]
|
0000978 |
Cerebral hemorrhage |
Bleeding in brain
|
0001342 |
Cervical spine instability | 0010646 | |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
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 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Motor delay | 0001270 | |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
Patent foramen ovale | 0001655 | |
Drooping upper eyelid
|
0000508 | |
Smooth philtrum | 0000319 | |
Spondylolisthesis |
Displacement of one backbone compared to another
Slipped backbone
[ more ]
|
0003302 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
1%-4% of people have these symptoms | ||
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
Ascending aortic dissection | 0004933 | |
Bifid uvula | 0000193 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Kyphoscoliosis | 0002751 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
Tall stature |
Increased body height
|
0000098 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Bilateral coxa valga | 0010665 | |
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Decreased muscle mass | 0003199 | |
Eosinophilic infiltration of the esophagus | 0410151 | |
Exotropia |
Outward facing eye ball
|
0000577 |
Hiatus hernia |
Stomach hernia
|
0002036 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
Increased arm span | 0012771 | |
Inguinal hernia | 0000023 | |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
Mitral regurgitation | 0001653 | |
Neonatal |
Low muscle tone, in neonatal onset
|
0001319 |
Pectus carinatum |
Pigeon chest
|
0000768 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
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.
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.