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.