GTR Home > Conditions/Phenotypes > Sjögren-Larsson syndrome

Summary

Sjogren-Larsson syndrome is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006). [from OMIM]

Available tests

13 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

Clinical features

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  • Short stature
  • Intellectual disability
  • Microcephaly
  • Thoracic kyphosis
  • Macular degeneration
  • CNS demyelination
  • Opacification of the corneal epithelium
  • Cognitive impairment
  • Abnormal retinal pigmentation
  • Seizure
  • Dry skin
  • Urticaria
  • Retinopathy
  • Myopia
  • Photophobia
  • Hyperkeratosis
  • Muscular hypotonia
  • Spasticity
  • Limitation of joint mobility
  • Neurological speech impairment
  • Scoliosis
  • Skeletal dysplasia
  • Hemiplegia/hemiparesis
  • Hypoplasia of dental enamel
  • Generalized hyperpigmentation
  • Ichthyosis
  • Inflammatory abnormality of the eye
  • Corneal erosion
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