NOONAN SYNDROME
\nˈuːnən sˈɪndɹə͡ʊm], \nˈuːnən sˈɪndɹəʊm], \n_ˈuː_n_ə_n s_ˈɪ_n_d_ɹ_əʊ_m]\
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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.
By DataStellar Co., Ltd
Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.
Nearby Words
- noologist
- noology
- noon
- noon clause
- noon-flower
- Noonan Syndrome
- noonan's syndrome
- noonday
- noonday or noontide
- nooning
- noonshun