Turner Syndrome. Monosomy X . Status Bonnevie-Ullrich . Turner's Syndrome . Ullrich-Turner Syndrome . Bonnevie Ullrich Syndrome . Status Bonnevie Ullrich . Syndrome, Ullrich-Turner . Turners Syndrome . Ullrich Turner Syndrome . XO Gonadal Dysgenesis . Bonnevie-Ullrich Syndrome . Gonadal Dysgenesis, 45,X . Gonadal Dysgenesis, XO . TURNER'S SYNDROME . A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant. . 0.72
Noonan Syndrome. Familial Turner Syndrome . Female Pseudo-Turner Syndrome . Noonan Syndrome 1 . Noonan-Ehmke Syndrome . Pseudo-Ullrich-Turner Syndrome . Turner Phenotype with Normal Karyotype . Turner's Phenotype, Karyotype Normal . Turner's Syndrome, Male . Turner-Like Syndrome . Ullrich-Noonan Syndrome . Female Pseudo Turner Syndrome . Male Turner's Syndrome . Noonan Ehmke Syndrome . Pseudo Ullrich Turner Syndrome . Pseudo-Turner Syndrome, Female . Syndrome, Familial Turner . Syndrome, Female Pseudo-Turner . Syndrome, Male Turner . Syndrome, Male Turner's . Syndrome, Noonan . Syndrome, Noonan-Ehmke . Syndrome, Pseudo-Ullrich-Turner . Syndrome, Turner-Like . Syndrome, Ullrich-Noonan . Turner Like Syndrome . Turner Syndrome, Familial . Ullrich Noonan Syndrome . Turner Syndrome, Male . Male Turner Syndrome . TURNER'S SYNDROME, MALE . A genetically heterogeneous, multifaceted disorder 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 INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. . 0.63
