Learn About Sjogren-Larsson Syndrome

What is the definition of Sjogren-Larsson Syndrome?

Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood and usually do not worsen with age.

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What are the causes of Sjogren-Larsson Syndrome?

Mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome. The ALDH3A2 gene provides instructions for making an enzyme called fatty aldehyde dehydrogenase (FALDH). The FALDH enzyme is part of a multistep process called fatty acid oxidation in which fats are broken down and converted into energy. Specifically, the FALDH enzyme breaks down molecules called fatty aldehydes to fatty acids.

How prevalent is Sjogren-Larsson Syndrome?

Sjögren-Larsson syndrome was first observed in Sweden, where the prevalence of this condition is 1 per 250,000 individuals. Outside Sweden, the prevalence of this condition is unknown.

Is Sjogren-Larsson Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Sjogren-Larsson Syndrome Local Doctors?
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Highly rated in
8
conditions
Medical Genetics
Pediatrics

Munroe Meyer Institute Genetics Clinic

412 S Saddle Creek Rd 
Omaha, NE 68131

William Rizzo is a Medical Genetics specialist and a Pediatrics doctor in Omaha, Nebraska. Dr. Rizzo has been practicing medicine for over 45 years and is rated as an Elite doctor by MediFind in the treatment of Sjogren-Larsson Syndrome. He is also highly rated in 8 other conditions, according to our data. His top areas of expertise are Sjogren-Larsson Syndrome, Pompe Disease, Danon Disease, and Leukodystrophy. He is licensed to treat patients in Nebraska. Dr. Rizzo is currently accepting new patients.

Distinguished
Highly rated in
5
conditions

Radboud University Medical Center

Amalia Children's Hospital, Radboud University Medical Centre 
Nijmegen, GE, NL 

Thomas Theelen is in Nijmegen, Netherlands. Theelen is rated as a Distinguished expert by MediFind in the treatment of Sjogren-Larsson Syndrome. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Sjogren-Larsson Syndrome, Stargardt Macular Degeneration, Spasticity, and Late-Onset Retinal Degeneration.

 
 
 
 
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Distinguished
Highly rated in
2
conditions

Medical University Of Innsbruck

Innsbruck, AT 6020

Markus Keller is in Innsbruck, Austria. Keller is rated as a Distinguished expert by MediFind in the treatment of Sjogren-Larsson Syndrome. He is also highly rated in 2 other conditions, according to our data. His top areas of expertise are Sjogren-Larsson Syndrome, Spasticity, Barth Syndrome, and X-Linked Chondrodysplasia Punctata 2.

What are the latest Sjogren-Larsson Syndrome Clinical Trials?
Sjogren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers
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Who are the sources who wrote this article ?

Published Date:updated Last, October

Published By: National Institutes of Health

What are the Latest Advances for Sjogren-Larsson Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.