Orphanet: Menkes disease
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Menkes disease

Disease definition

A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair.

ORPHA:565

Classification level: Disorder
  • Synonym(s):
    • MD
    • Menkes kinky hair disease
    • Menkes syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: E83.0
  • OMIM: 309400
  • UMLS: C0022716
  • MeSH: -
  • GARD: 1521
  • MedDRA: 10027294

Detailed information

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