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 | ||
Short fingers or toes
|
0001156 | |
Glaucoma | 0000501 | |
High myopia |
Severe near sightedness
Severely near sighted
Severely close sighted
[ more ]
|
0011003 |
Small stature
Decreased body height
[ more ]
|
0004322 | |
Short thumb |
Short thumbs
Small thumbs
[ more ]
|
0009778 |
30%-79% of people have these symptoms | ||
Ectopia lentis | 0001083 | |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
Thickened skin |
Thick skin
|
0001072 |
5%-29% of people have these symptoms | ||
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Mild and nonprogressive mental retardation
Mental retardation, borderline-mild
Mild mental retardation
[ more ]
|
0001256 | |
Mitral regurgitation | 0001653 | |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
1%-4% of people have these symptoms | ||
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Microspherophakia | 0030961 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of dental morphology |
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth
[ more ]
|
0006482 |
0000006 | ||
0000007 | ||
Blindness | 0000618 | |
Brachycephaly |
Short and broad skull
|
0000248 |
Broad metacarpals |
Wide long bones of hand
|
0001230 |
Broad metatarsal |
Wide long bone of foot
|
0001783 |
Broad palm |
Broad hand
Broad hands
Wide palm
[ more ]
|
0001169 |
Broad phalanges of the hand |
Wide hand bones
|
0009768 |
Broad ribs |
Wide ribs
|
0000885 |
Broad skull |
Increased width of skull
Wide skull
[ more ]
|
0002682 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Misalignment of teeth |
Abnormal dental position
Abnormal teeth spacing
Abnormality of alignment of teeth
Abnormality of teeth spacing
Crooked teeth
Malaligned teeth
Malposition of teeth
Malpositioned teeth
[ more ]
|
0000692 |
Narrow palate |
Narrow roof of mouth
|
0000189 |
Patent ductus arteriosus | 0001643 | |
Proportionate short stature | 0003508 | |
0002650 | ||
Shallow anterior chamber | 0000594 | |
Shallow orbits |
Decreased depth of eye sockets
Shallow eye sockets
[ more ]
|
0000586 |
Spinal canal stenosis |
Narrow spinal canal
|
0003416 |
Thin bony cortex | 0002753 |
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.
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. Submit a new question
Three of my children have been diagnosed with Weill-Marchesani syndrome. Can you please provide me with information about this rare disease? See answer