Other symptoms may include
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||
|80%-99% of people have these symptoms|
|Abnormality of vision||
Abnormality of sight
Vision issue[ more ]
Clouding of the lens of the eye
Cloudy lens[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Fatty deposits in skin around the eyes
Fatty deposits on eyelids[ more ]
|30%-79% of people have these symptoms|
|Abnormal pyramidal sign||0007256|
|Abnormality of extrapyramidal motor function||0002071|
|Abnormality of the periventricular white matter||0002518|
Narrowing and hardening of arteries
Loss of developmental milestones
Mental deterioration in childhood[ more ]
Sensory hallucination[ more ]
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol[ more ]
|Neurological speech impairment||
Speech impediment[ more ]
Involuntary muscle stiffness, contraction, or spasm
|5%-29% of people have these symptoms|
Abnormal deposits of calcium in the brain
Slowed or blocked flow of bile from liver
Recurrent joint dislocations[ more ]
Stiff joints[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal circulating cholesterol concentration||
Abnormality of cholesterol metabolism
|Abnormality of central somatosensory evoked potentials||0100291|
|Abnormality of the dentate
Degeneration of cerebellum
Degeneration of cerebrum
Progressive dementia[ more ]
|EEG with generalized slow activity||0010845|
|EMG: axonal abnormality||0003482|
|Optic disc pallor||0000543|
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
Differential diagnoses include other causes of xanthomata such as sitosterolemia and hyperlipemia (especially type IIa, also known as familial hypercholesterolemia [see these terms]), and for infants presenting with cholestasis, all other causes of neonatal cholestasis.
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.
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.
NORD RareLaunch® Workshops
December 1, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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. Submit a new question
I believe my daughter may have cerebrotendinous xanthomatosis. Can you provide me with more information on this condition? See answer