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Noonan syndrome with multiple lentigines

Disease definition

Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

ORPHA:500

  • Synonym(s):
    • Cardiomyopathic lentiginosis
    • Familial multiple lentigines syndrome
    • LEOPARD syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q87.1
  • OMIM: 151100  611554  613707
  • UMLS: C0175704  C2931424
  • MeSH: C537116  D044542
  • GARD: 1100
  • MedDRA: 10062901

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