serw-MX  [xml]  

 DeCS Categories

C05 Musculoskeletal Diseases .
C05.116 Bone Diseases .
C05.116.099 Bone Diseases, Developmental .
C05.116.099.708 Osteochondrodysplasias .
C05.116.099.708.857 Short Rib-Polydactyly Syndrome .
C05.660 Musculoskeletal Abnormalities .
C05.660.207 Craniofacial Abnormalities .
C05.660.207.690 Noonan Syndrome .
C05.660.585 Limb Deformities, Congenital .
C05.660.585.600 Polydactyly .
C05.660.585.600.750 Short Rib-Polydactyly Syndrome .
C14 Cardiovascular Diseases .
C14.240 Cardiovascular Abnormalities .
C14.240.400 Heart Defects, Congenital .
C14.240.400.787 Noonan Syndrome .
C14.280 Heart Diseases .
C14.280.400 Heart Defects, Congenital .
C14.280.400.787 Noonan Syndrome .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.131 Congenital Abnormalities .
C16.131.077 Abnormalities, Multiple .
C16.131.077.850 Short Rib-Polydactyly Syndrome .
C16.131.240 Cardiovascular Abnormalities .
C16.131.240.400 Heart Defects, Congenital .
C16.131.240.400.784 Noonan Syndrome .
C16.131.621 Musculoskeletal Abnormalities .
C16.131.621.207 Craniofacial Abnormalities .
C16.131.621.207.690 Noonan Syndrome .
C16.131.621.585 Limb Deformities, Congenital .
C16.131.621.585.600 Polydactyly .
C16.131.621.585.600.750 Short Rib-Polydactyly Syndrome .
C17 Skin and Connective Tissue Diseases .
C17.300 Connective Tissue Diseases .
C17.300.690 Noonan Syndrome .
 Synonyms & Historicals
Noonan Syndrome .
Familial Turner Syndrome .
Female Pseudo-Turner Syndrome .
Noonan Syndrome 1 .
Noonan-Ehmke Syndrome .
Pseudo-Ullrich-Turner Syndrome .
Turner Phenotype with Normal Karyotype .
Turner's Phenotype, Karyotype Normal .
Turner's Syndrome, Male .
Turner-Like Syndrome .
Ullrich-Noonan Syndrome .
Female Pseudo Turner Syndrome .
Male Turner's Syndrome .
Noonan Ehmke Syndrome .
Pseudo Ullrich Turner Syndrome .
Pseudo-Turner Syndrome, Female .
Syndrome, Familial Turner .
Syndrome, Female Pseudo-Turner .
Syndrome, Male Turner .
Syndrome, Male Turner's .
Syndrome, Noonan .
Syndrome, Noonan-Ehmke .
Syndrome, Pseudo-Ullrich-Turner .
Syndrome, Turner-Like .
Syndrome, Ullrich-Noonan .
Turner Like Syndrome .
Turner Syndrome, Familial .
Ullrich Noonan Syndrome .
Turner Syndrome, Male .
Male Turner 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 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. .
Short Rib-Polydactyly Syndrome .
Asphyxiating Thoracic Dystrophy 3 .
Polydactyly With Neonatal Chondrodystrophy, Type I .
Polydactyly With Neonatal Chondrodystrophy, Type II .
Polydactyly with Neonatal Chondrodystrophy, Type 1 .
Polydactyly with Neonatal Chondrodystrophy, Type 2 .
Short Rib-Polydactyly Syndrome Type 1 .
Short Rib-Polydactyly Syndrome, Majewski Type .
Short Rib-Polydactyly Syndrome, Saldino-Noonan Type .
Short Rib-Polydactyly Syndrome, Type I .
Short Rib-Polydactyly Syndrome, Type II .
Saldino Noonan Syndrome .
Short Rib Polydactyly Syndrome .
Short Rib Polydactyly Syndrome Type 1 .
Short Rib Polydactyly Syndrome, Majewski Type .
Short Rib Polydactyly Syndrome, Saldino Noonan Type .
Short Rib Polydactyly Syndrome, Type I .
Short Rib Polydactyly Syndrome, Type II .
Short Rib-Polydactyly Syndromes .
Majewski Syndrome .
Saldino-Noonan Syndrome .
A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly. .