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Other Names for this Disease
- FADH deficiency
- FALDH deficiency
- FAO deficiency
- Fatty aldehyde dehydrogenase deficiency
- Ichthyosis, spastic neurologic disorder, and oligophrenia
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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 :
- Developmental delay
- Mental retardation
- Speech difficulties
- 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
- Sjogren-Larsson Syndrome. United Leukodystrophy Foundation. http://ulf.org/sjogren-larsson-syndrome. Accessed 9/21/2012.
- 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.