Number of the records: 1
Noonanovej syndróm
Record number d009634 Date 06.06.2025 Type M Topical term Noonanovej syndróm Other term English (Pseudonym) Male Turner Syndrome
English (Pseudonym) Turner Syndrome, Male
Slovak (Pseudonym) Turnerov syndróm mužský
Slovak (Pseudonym) Turnerov syndróm u mužov
See also (Later heading) neurofibromatóza 1
(Skutočné meno) neurofibromatóza 1
(Skutočné meno) Turnerov syndróm
(Skutočné meno) LEOPARD-syndróm
(Skutočné meno) Costellov syndróm
(Later heading) Turnerov syndróm
(Later heading) LEOPARD-syndróm
(Later heading) Costellov syndróm
UDC C05.660.207.690C14.240.400.787C14.280.400.787C16.131.240.400.784C16.131.621.207.690C17.300.690 Note 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. 
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Number of the records: 1