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||
|80%-99% of people have these symptoms|
|Abnormal fingernail morphology||
Abnormality of the fingernails[ more ]
|Aplasia/Hypoplasia of the patella||
Absent/underdeveloped kneecap[ more ]
Outward turned elbows
Formation of new noncancerous bone on top of existing bone
Joints move beyond expected range of motion
Stiff joints[ more ]
Nail ridging[ more ]
|Thickening of the lateral border of the scapula||
Thickening of the lateral border of the shoulder blade
|30%-79% of people have these symptoms|
Degenerative joint disease
High urine protein levels
Protein in urine[ more ]
|5%-29% of people have these symptoms|
Clouding of the lens of the eye
Cloudy lens[ more ]
Hearing defect[ more ]
Blood in urine
Renal failure in adulthood[ more ]
Inflammation of blood vessel
|1%-4% of people have these symptoms|
|Absent distal interphalangeal creases||0001032|
|Limited elbow extension||
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension[ more ]
Excessive inward curvature of lower spine
Underdeveloped kneecap[ more ]
Flat foot[ more ]
Clubfoot[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Absence of pectoralis minor muscle||0005255|
Aplastic nails[ more ]
Cleft roof of mouth
|Cleft upper lip||
|Clinodactyly of the 5th finger||
Permanent curving of the pinkie finger
|Disproportionate prominence of the femoral medial condyle||0006437|
|Glenoid fossa hypoplasia||0006633|
|Hypoplasia of first ribs||
Small first rib
Underdeveloped first rib[ more ]
|Hypoplastic radial head||0003997|
Cornea of eye less than 10mm in diameter
Drooping upper eyelid
Abnormal curving of the spine
|Sensorineural hearing impairment||0000407|
Decreased body height
Small stature[ more ]
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.