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Disease definition

A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths.


Classification level: Disorder
  • Synonym(s):
    • Cutis laxa-leukodystrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E75.2
  • OMIM: 221790
  • UMLS: C1857314
  • MeSH: C538220
  • GARD: 1813
  • MedDRA: -
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