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Epidermal nevus syndrome

Disease definition

Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.

ORPHA:35125

  • Synonym(s):
    • Epidermal hamartoma syndrome
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q85.8
  • OMIM: -
  • UMLS: C0334082
  • MeSH: C536114  D054000
  • GARD: -
  • MedDRA: 10014985
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