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Noonan Syndrome

More information in Books or onNLM PubMed
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.     
See Also Costello Syndrome; LEOPARD Syndrome; Neurofibromatosis 1; Turner Syndrome 		Other names Turner Syndrome, Male; Male Turner Syndrome; Turners Syndrome, Male; Turner Syndromes, Male; Syndromes, Male Turner; Syndrome, Male Turner's; Syndrome, Male Turner; Syndrome, Female Pseudo-Turner; Pseudo-Turner Syndrome, Female; Male Turner's Syndrome; Male Turner Syndromes; Female Pseudo Turner Syndrome; Turner's Syndrome, Male; Turner Phenotype with Normal Karyotype; Syndrome, Noonan; Female Pseudo-Turner Syndrome
 
SubstanceCAS Registry & nameCategoriesSource
Noonan Syndrome 6  0   *Noonan Syndrome.
Noonan Syndrome 5  0   *Noonan Syndrome.
Noonan Syndrome 4  0   *Noonan Syndrome.
Noonan Syndrome 2  0   *Noonan Syndrome.
Noonan syndrome 3  0   *Noonan Syndrome.
Noonan like syndrome  0   *Noonan Syndrome.
Kousseff Nichols syndrome  0   *Noonan Syndrome.
Neurofibromatosis-Noonan syndrome  0   *Noonan Syndrome *Neurofibromatoses.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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