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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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
More Names
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Symptoms


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What are the signs and symptoms of Sjogren-Larsson syndrome (SLS)?

The signs and symptoms of SLS typically occur within the first two years of life. A primary feature of SLS is dry, scaly skin, which is called ichthyosis. In addition to ichthyosis, people can develop some or all of the following symptoms [1][2]:

  • Developmental delay
  • Mental retardation
  • Speech difficulties
  • Seizures
  • Spastic diplegia/tetraplegia paralysis (diplegia is paralysis of both legs; tetraplegia is paralysis of all four limbs)
  • Spasticity in the legs: leg spasms, which can impair motor abilities and waking
  • Glistening white dotes in the retina of the eye
  • Pruritis (itching)
  • Preterm birth
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.