Other terms
Syndrome, Noonan,Turner Syndrome, Male,Syndrome, Male Turner,Turner's Syndrome, Male,Male Turner's Syndrome,Syndrome, Male Turner's,Turners Syndrome, Male,Male Turner Syndrome,Male Turner Syndromes,Syndromes, Male Turner,Turner Syndromes, Male,Female Pseudo-Turner Syndrome,Female Pseudo Turner Syndrome,Pseudo-Turner Syndrome, Female,Syndrome, Female Pseudo-Turner
Description
Noonan Syndrome: A 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 MENTAL RETARDATION. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. However, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). NS1 is due to mutations at chromosome location 12q24.1, in PTPN11, a gene encoding PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
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