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 | |
Dry skin | 0000958 | |
Erythema | 0010783 | |
Hyperkeratosis | 0000962 | |
Ichthyosis | 0008064 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Skeletal dysplasia | 0002652 | |
Spastic diplegia | 0001264 | |
30%-79% of people have these symptoms | ||
Abnormality of retinal pigmentation | 0007703 | |
Corneal erosion |
Damage to outer layer of the cornea of the eye
|
0200020 |
Difficulty articulating speech
|
0001260 | |
Generalized hyperpigmentation | 0007440 | |
Inflammatory abnormality of the eye | 0100533 | |
Macular degeneration | 0000608 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
|
0000613 |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
Seizure | 0001250 | |
5%-29% of people have these symptoms | ||
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Muscular |
Low or weak muscle tone
|
0001252 |
0002650 | ||
Decreased body height
Small stature
[ more ]
|
0004322 | |
Urticaria |
Hives
|
0001025 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
0007305 | ||
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Opacification of the corneal epithelium | 0007727 | |
Retinal pigment epithelial atrophy | 0007722 | |
Retinal thinning | 0030329 | |
Spasticity |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 |
Thoracic kyphosis | 0002942 |
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
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In early infancy, before the onset of spasticity, the differential diagnosis includes other forms of congenital ichthyosis including lamellar ichthyosis and congenital ichthyosiform erythroderma. Once neurologic symptoms appear, the differential diagnosis includes other neuro-ichthyotic syndromes such as neutral lipid storage disease (Chanarin-Dorfman syndrome), ELOVL4 deficiency, multiple sulfatase deficiency and Refsum disease.
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.
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.