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 | ||
| Constriction of peripheral visual field |
Limited peripheral vision
|
0001133 |
| Elevated levels of phytanic acid | 0010571 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Global |
0001263 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ]
|
0000662 |
| Progressive muscle weakness | 0003323 | |
| Rod-cone dystrophy | 0000510 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Very long chain fatty acid accumulation | 0008167 | |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| 30%-79% of people have these symptoms | ||
| 0001251 | ||
| Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
|
0000708 |
| Muscular |
Low or weak muscle tone
|
0001252 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Sensorineural hearing impairment | 0000407 | |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
|
Disease of the heart muscle
|
0001638 | |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Facial palsy |
Bell's palsy
|
0010628 |
| Ichthyosis | 0008064 | |
| Optic atrophy | 0000648 | |
|
Seizure
|
0001250 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal bleeding |
Bleeding tendency
|
0001892 |
| Abnormal electroretinogram | 0000512 | |
| 0000007 | ||
|
Symptoms present at birth
|
0003577 | |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
| Flat face |
Flat facial shape
|
0012368 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hypocholesterolemia |
Decreased circulating cholesterol level
|
0003146 |
| Hyporeflexia | 0001265 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| 0000939 | ||
| Polyneuropathy |
Peripheral nerve disease
|
0001271 |
| Single transverse palmar crease | 0000954 | |
| Steatorrhea | 0002570 | |
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 main differential diagnoses include Usher syndrome I and II, other PBD-ZSS disorders (see these terms), single enzyme defects in peroxisome fatty acid beta-oxidation, and disorders that feature severe hypotonia, neonatal seizures, liver dysfunction or leukodystrophy. IRD should not be confused with adult Refsum disease (see this term).
Visit the
Orphanet disease page
for more information.
|
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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.
