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.

Descriptor ID	D009634
MeSH 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
Concept/Terms	Noonan Syndrome Noonan Syndrome Syndrome, Noonan Turner Phenotype with Normal Karyotype Noonan Syndrome 1 Female Pseudo-Turner Syndrome Female Pseudo-Turner Syndrome Female Pseudo Turner Syndrome Pseudo-Turner Syndrome, Female Syndrome, Female Pseudo-Turner Turner Syndrome, Male 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

Below are MeSH descriptors whose meaning is more general than "Noonan Syndrome".

Below are MeSH descriptors whose meaning is related to "Noonan Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Noonan Syndrome".