Term Name: | Noonan syndrome with multiple lentigines |
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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. |
Ontology: | Human Disease [DOID:14291] ( DOID:14291 ) |