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 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.
Year introduced: 1979
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Tree Number(s): C05.660.207.690, C14.240.400.787, C14.280.400.787, C16.131.240.400.784, C16.131.621.207.690, C17.300.690
MeSH Unique ID: D009634
Entry Terms:
- Familial Turner Syndrome
- Turner Syndrome, Familial
- Noonan-Ehmke Syndrome
- Noonan Ehmke Syndrome
- Pseudo-Ullrich-Turner Syndrome
- Pseudo Ullrich Turner Syndrome
- Turner Phenotype with Normal Karyotype
- Turner's Phenotype, Karyotype Normal
- Turner-Like Syndrome
- Turner Like Syndrome
- Ullrich-Noonan Syndrome
- Ullrich Noonan Syndrome
- Turner Syndrome, Male
- Male Turner Syndrome
- Turner's Syndrome, Male
- Male Turner's Syndrome
- Female Pseudo-Turner Syndrome
- Female Pseudo Turner Syndrome
- Pseudo-Turner Syndrome, Female
- Noonan Syndrome 1
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