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) |
| Abnormality of metabolism/homeostasis | 90% |
| Abnormality of retinal pigmentation | 90% |
| Cognitive impairment | 90% |
| Hepatomegaly | 90% |
| Nyctalopia | 90% |
| Short stature | 90% |
| Skeletal muscle atrophy | 90% |
| Visual impairment | 90% |
| Behavioral abnormality | 50% |
| Hypertonia | 50% |
| Incoordination | 50% |
| Muscular hypotonia | 50% |
| Nystagmus | 50% |
| Sensorineural hearing impairment | 50% |
| Abnormality of epiphysis morphology | 7.5% |
| Arrhythmia | 7.5% |
| Cataract | 7.5% |
| Facial palsy | 7.5% |
| Hypertrophic cardiomyopathy | 7.5% |
| Ichthyosis | 7.5% |
| Optic atrophy | 7.5% |
| Seizures | 7.5% |
| Abnormal bleeding | - |
| Abnormal electroretinogram | - |
| Abnormal facial shape | - |
| Autosomal recessive inheritance | - |
| Congenital onset | - |
| Depressed nasal ridge | - |
| Failure to thrive | - |
| Flat face | - |
| Hypocholesterolemia | - |
| Hyporeflexia | - |
| Intellectual disability | - |
| Malar flattening | - |
| Osteoporosis | - |
| Polyneuropathy | - |
| Rod-cone dystrophy | - |
| Single transverse palmar crease | - |
| Steatorrhea | - |
| Very long chain fatty acid accumulation | - |
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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.
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.
