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Noonan syndrome with multiple lentigines

ORPHA500
Synonym(s) Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Childhood
ICD-10
  • Q87.1
OMIM
UMLS
  • C0175704
  • C2931424
MeSH
  • C537116
  • D044542
MedDRA
  • 10062901

Summary

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.

Expert reviewer(s)

  • Dr Maria Cristina DIGILIO

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Detailed information

Review article
Article for general public
Clinical genetics review
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