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Human Disease

Noonan syndrome with multiple lentigines

Term ID
DOID:14291
Synonyms
  • Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
  • Generalized lentiginosis
  • Gorlin syndrome II
  • Lentiginosis profusa syndrome
  • LEOPARD syndrome
  • Moynahan syndrome
  • Multiple lentigines syndrome
  • Progressive cardiomyopathic lentiginosis
Definition
A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. (2)
References
Ontology
Human Disease   ( DOID:14291 )
Relationships
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has subtype
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Genes Involved
Zebrafish Models