The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Constriction of peripheral visual field | Very frequent (present in 80%-99% of cases) |
| Elevated levels of phytanic acid | Very frequent (present in 80%-99% of cases) |
| Failure to thrive | Very frequent (present in 80%-99% of cases) |
| Hepatomegaly | Very frequent (present in 80%-99% of cases) |
| Nyctalopia | Very frequent (present in 80%-99% of cases) |
| Progressive muscle weakness | Very frequent (present in 80%-99% of cases) |
| Rod-cone dystrophy | Very frequent (present in 80%-99% of cases) |
| Very long chain fatty acid accumulation | Very frequent (present in 80%-99% of cases) |
| Visual impairment | Very frequent (present in 80%-99% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Behavioral abnormality | Frequent (present in 30%-79% of cases) |
| Muscular |
Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Sensorineural hearing impairment | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Abnormality of epiphysis morphology | Occasional (present in 5%-29% of cases) |
| Arrhythmia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Occasional (present in 5%-29% of cases) |
|
| Facial palsy | Occasional (present in 5%-29% of cases) |
| Ichthyosis | Occasional (present in 5%-29% of cases) |
| Optic atrophy | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Abnormal bleeding | - |
| Abnormal electroretinogram | - |
| Abnormal facial shape | - |
| - | |
| - | |
| Depressed nasal ridge | - |
| Flat face | - |
| Hypocholesterolemia | - |
| Hyporeflexia | - |
| - | |
| Malar flattening | - |
| - | |
| Polyneuropathy | - |
| Single transverse palmar crease | - |
| Steatorrhea | - |
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Nutritional Challenges in the High-Risk Infant Monday, September 14, 2009 -
Tuesday, September 15, 2009
Location: DC Metro Area,
Description: Evidence was critically evaluated at this workshop. Current gaps in knowledge in this area were identified and research priorities were formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.
Contact: Dr. Rosemary D. Higgins, NICHD 301-435-7909
Co-funding Institute(s): National Institute of Child Health and Human Development
The following diseases are related to Refsum disease, infantile form. If you have a question about any of these diseases, you can contact GARD.
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.
