\nˈuːnən sˈɪndɹə͡ʊm], \nˈuːnən sˈɪndɹəʊm], \n_ˈuː_n_ə_n s_ˈɪ_n_d_ɹ_əʊ_m]\
Definitions of NOONAN SYNDROME
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A multifaceted disorder that is characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of MENTAL RETARDATION. The phenotype resembles that of TURNER SYNDROME; however, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). Nevertheless, familial studies suggest that the trait is inherited as an autosomal dominant.
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