Noonan syndrome with multiple lentigines (DOID:14291)
Alliance: disease page
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
Alt IDs: MESH:D044542, NCI:C84820, OMIM:PS151100, ORDO:500, UMLS_CUI:C0175704
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.