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Sjogren-Larsson syndrome


Other Names for this Disease

  • FADH deficiency
  • FALDH deficiency
  • FAO deficiency
  • Fatty aldehyde dehydrogenase deficiency
  • Ichthyosis, spastic neurologic disorder, and oligophrenia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Sjogren-Larsson syndrome (SLS) is an inborn error of lipid metabolism, characterized by congenital ichthyosis (dry, scaly skin), mental retardation, and spasticity (stiffness and involuntary muscle spasms).  The syndrome is caused by mutations in the gene called FADH (fatty aldehyde dehydrogenase) and is inherited in an autosomal recessive fashion. Treatment is symptomatic.[1][2]
Last updated: 9/21/2012

References

  1. Sjogren-Larsson Syndrome. United Leukodystrophy Foundation. http://ulf.org/sjogren-larsson-syndrome. Accessed 9/21/2012.
  2. Rizzo WB. Sjogren-Larsson Syndrome: Molecular Genetics and Biochemical Pathogenesis of Fatty Aldehyde Dehydrogenase Deficiency. Mol Genet Metab. September 22, 2006; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1933507/?tool=pubmed. Accessed 9/21/2012.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Sjogren-Larsson syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Sjogren-Larsson syndrome. This website is maintained by the National Library of Medicine.
  • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Sjogren-Larsson syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • FADH deficiency
  • FALDH deficiency
  • FAO deficiency
  • Fatty aldehyde dehydrogenase deficiency
  • Ichthyosis, spastic neurologic disorder, and oligophrenia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.