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 retinal pigmentation||50%|
|Inflammatory abnormality of the eye||50%|
|Neurological speech impairment||50%|
|Limitation of joint mobility||7.5%|
|Autosomal recessive inheritance||-|
|Hypoplasia of dental enamel||-|
|Opacification of the corneal epithelium||-|
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.
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.
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We have two children with Sjogren-Larsson syndrome. Is there treatment? See answer
I am a genetic counselor. We recently made a diagnosis of Sjogren-Larsson in a young child, and I am on the search for patient information for her family. I have found very little information so far (besides medical journal articles). Would you be able to point me to any other source of information (besides FIRST) where I can find information to pass along to this family? The family will be coming back early next week to discuss the diagnosis. See answer