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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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

The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren-Larsson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Cognitive impairment 90%
Dry skin 90%
Hemiplegia/hemiparesis 90%
Hyperkeratosis 90%
Ichthyosis 90%
Skeletal dysplasia 90%
Abnormal retinal pigmentation 50%
Corneal erosion 50%
Generalized hyperpigmentation 50%
Inflammatory abnormality of the eye 50%
Myopia 50%
Neurological speech impairment 50%
Photophobia 50%
Retinopathy 50%
Seizures 50%
Limitation of joint mobility 7.5%
Muscular hypotonia 7.5%
Scoliosis 7.5%
Short stature 7.5%
Urticaria 7.5%
Autosomal recessive inheritance -
CNS demyelination -
Hypoplasia of dental enamel -
Intellectual disability -
Macular degeneration -
Opacification of the corneal epithelium -
Spasticity -
Thoracic kyphosis -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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.


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.