/Noonan syndrome with multiple lentigines

Noonan syndrome with multiple lentigines

Rare Disease

MONDO:0007893

Also Known As

Capute-Rimoin-Konigsmark-Esterly-Richardson syndromeCardiomyopathic lentiginosisGorlin syndrome IILEOPARD syndromeNoonan syndrome with multiple lentiginesfamilial multiple lentigines syndromegeneralised lentiginosisgeneralized lentiginosislentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafnesslentiginosis profusa syndromeprogressive cardiomyopathic lentiginosisMoynahan syndromelentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes

Definition

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