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Noonan syndrome with multiple lentigines

Disease definition

A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

ORPHA:500

Classification level: Disorder
  • 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

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.