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 | ||
| Optic nerve dysplasia | 0001093 | |
| Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ]
|
0000083 |
| 30%-79% of people have these symptoms | ||
| Multicystic kidney dysplasia | 0000003 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Renal dysplasia | 0000110 | |
| Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ]
|
0000089 |
| Stage 5 chronic |
0003774 | |
| Vesicoureteral reflux | 0000076 | |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| 5%-29% of people have these symptoms | ||
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Edema |
Fluid retention
Water retention
[ more ]
|
0000969 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Lens luxation |
Dislocated lens
Dislocated lenses
[ more ]
|
0012019 |
| Macular degeneration | 0000608 | |
| Macular hyperpigmentation | 0011509 | |
| Nephrolithiasis |
Kidney stones
|
0000787 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Optic nerve coloboma | 0000588 | |
| Renal malrotation |
Abnormal rotation of the kidneys
|
0004712 |
| Retinal coloboma |
Hole in the back of the eye
|
0000480 |
| Retinal detachment |
Detached retina
|
0000541 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Arnold-Chiari type I malformation | 0007099 | |
| 0000006 | ||
| Chorioretinal atrophy | 0000533 | |
| Gliosis | 0002171 | |
| Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ]
|
0000974 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Morning glory anomaly | 0025514 | |
| Orbital cyst |
Cyst of eye socket
|
0001144 |
|
High urine protein levels
Protein in urine
[ more ]
|
0000093 | |
|
Seizure
|
0001250 | |
| Sensorineural hearing impairment | 0000407 | |
| Soft skin | 0000977 | |
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
The differential diagnosis includes conditions where colobomas and renal anomalies have been identified such as CHARGE syndrome and Joubert syndrome with oculorenal defect (see these terms). However these disorders generally have other characteristic findings not found in RCS.
Visit the
Orphanet disease page
for more information.
|
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.
