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Arthrogryposis-hyperkeratosis syndrome, lethal form

Disease definition

A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.

ORPHA:1485

Classification level: Disorder
  • Synonym(s):
    • Johnston-Aarons-Schelley syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: -
  • OMIM: 208158
  • UMLS: C1859710
  • MeSH: -
  • GARD: 3053
  • MedDRA: -

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