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