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 | ||
| Absent distal phalanges |
Absent outermost digital bones
|
0005807 |
| Arnold-Chiari malformation | 0002308 | |
| 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 |
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Bicuspid pulmonary valve | 0005182 | |
| 0001363 | ||
| Descending thoracic aorta aneurysm | 0004959 | |
| Dilatation of the cerebral artery | 0004944 | |
| Disproportionate tall stature | 0001519 | |
| Global |
0001263 | |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Inguinal hernia | 0000023 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Mitral valve prolapse | 0001634 | |
| 0000939 | ||
|
More than five fingers or toes on hands or feet
|
0010442 | |
| Postaxial polydactyly | 0100259 | |
|
Webbed fingers or toes
|
0001159 | |
| Umbilical hernia | 0001537 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
| Ascending aortic dissection | 0004933 | |
| Ascending tubular aorta aneurysm |
Bulging of wall of large artery located above heart
|
0004970 |
| 0000006 | ||
| Bifid uvula | 0000193 | |
| Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
|
Short fingers or toes
|
0001156 | |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Dermal translucency | 0010648 | |
| Eosinophilic infiltration of the esophagus | 0410151 | |
| Exotropia |
Outward facing eye ball
|
0000577 |
| Generalized arterial tortuosity |
Generalized twisted arteries
|
0004955 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Joint |
0009473 | |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Patent ductus arteriosus | 0001643 | |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Protrusio acetabuli | 0003179 | |
| Pulmonary artery aneurysm | 0004937 | |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| 0002650 | ||
| Spondylolisthesis |
Displacement of one backbone compared to another
Slipped backbone
[ more ]
|
0003302 |
| Spontaneous pneumothorax |
Spontaneous collapsed lung
|
0002108 |
| Striae distensae |
Stretch marks
|
0001065 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
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.
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.
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.
