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 | ||
| Abnormal pyramidal sign | 0007256 | |
| Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ]
|
0001939 |
| Abnormality of retinal pigmentation | 0007703 | |
| Anosmia |
Lost smell
|
0000458 |
| 0001251 | ||
|
Disease of the heart muscle
|
0001638 | |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Dry skin | 0000958 | |
| Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
| Ichthyosis | 0008064 | |
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| 0009830 | ||
| Retinopathy |
Noninflammatory retina disease
|
0000488 |
| Sensorineural hearing impairment | 0000407 | |
| Skeletal dysplasia | 0002652 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
| Hammertoe |
Hammer toe
Hammertoes
[ more ]
|
0001765 |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
| Miosis |
Constricted pupils
Pupillary constriction
[ more ]
|
0000616 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ]
|
0000662 |
|
Drooping upper eyelid
|
0000508 | |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Splenomegaly |
Increased spleen size
|
0001744 |
| 5%-29% of people have these symptoms | ||
| Abnormal renal physiology |
Abnormal kidney function
Kidney function issue
[ more ]
|
0012211 |
| Heart block | 0012722 | |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Pes cavus |
High-arched foot
|
0001761 |
| Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ]
|
0000529 |
| Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ]
|
0000083 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Percent of people who have these symptoms is not available through HPO | ||
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
| 0000007 | ||
| Cardiomegaly |
Enlarged heart
Increased heart size
[ more ]
|
0001640 |
| Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
| Elevated levels of phytanic acid | 0010571 | |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
| Increased CSF |
0002922 | |
| Limb muscle weakness |
Limb weakness
|
0003690 |
| Multiple epiphyseal dysplasia | 0002654 | |
| Retinal degeneration |
Retina degeneration
|
0000546 |
| Rod-cone dystrophy | 0000510 | |
| Sensorimotor neuropathy |
Nerve damage causing decreased feeling and movement
|
0007141 |
| Sensory impairment | 0003474 | |
| Short fourth metatarsal |
Short 4th long bone of foot
|
0004689 |
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
|
|---|
|
Other causes of retinitis pigmentosa and sensorineural hearing loss should be considered in the differential diagnosis (Usher syndromes, types 1, 2, and 3; Alström syndrome; Kearns-Sayre syndrome; Sjögren-Larsson syndrome). Refsum disease should not be confused with infantile Refsum disease a misnomer that belongs to the Zellweger syndrome spectrum.
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.
