| Definitions |
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.
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| altLabel |
Pseudo Ullrich Turner Syndrome Syndrome, Male Turner Ullrich-Noonan Syndrome Turner Like Syndrome Noonan Syndrome 1 Male Turner Syndrome Syndrome, Male Turner's Turner Syndrome, Male Pseudo-Ullrich-Turner Syndrome Syndrome, Pseudo-Ullrich-Turner Pseudo-Turner Syndrome, Female Female Pseudo-Turner Syndrome Noonan Ehmke Syndrome Noonan-Ehmke Syndrome Female Pseudo Turner Syndrome Turner's Syndrome, Male Ullrich Noonan Syndrome Syndrome, Ullrich-Noonan Syndrome, Female Pseudo-Turner Syndrome, Turner-Like Turner Syndrome, Familial Male Turner's Syndrome Syndrome, Noonan Turner Phenotype with Normal Karyotype Turner-Like Syndrome Familial Turner Syndrome Turner's Phenotype, Karyotype Normal Syndrome, Noonan-Ehmke Syndrome, Familial Turner
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| definition |
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.
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