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)|
|Abnormal pyramidal signs||90%|
|Abnormality of metabolism/homeostasis||90%|
|Abnormality of retinal pigmentation||90%|
|Abnormality of the sense of smell||90%|
|Neurological speech impairment||90%|
|Sensorineural hearing impairment||90%|
|Abnormality of epiphysis morphology||50%|
|Abnormality of the metacarpal bones||50%|
|Abnormality of the pupil||50%|
|Camptodactyly of toe||50%|
|Skeletal muscle atrophy||50%|
|Aplasia/Hypoplasia affecting the eye||7.5%|
|Abnormal renal physiology||5%|
|Autosomal recessive inheritance||-|
|Congestive heart failure||-|
|Elevated levels of phytanic acid||-|
|Increased CSF protein||-|
|Limb muscle weakness||-|
|Multiple epiphyseal dysplasia||-|
|Short fourth metatarsal||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
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.
The following diseases are related to Refsum disease. If you have a question about any of these diseases, you can contact GARD.
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