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  • Noonan¡¯s syndrome
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  • Noonan s syndrome
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NFNS neurofibromatosis-Noonan syndrome
NS natural science; Neosporin; nephrosclerosis; nephrotic syndrome; nervous system; neurological surger...
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NS Noonan Syndrome
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Noonan Jacqueline A., U.S. Paediatric cardiologist, *1921.
See: Noonan's syndrome.
(05 Mar 2000)
noonan syndrome <syndrome> A multifaceted disorder due to a basic defect of connective tissue. It is characterised 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 resembles that of turner's syndrome; however, noonan syndrome occurs in both males and females, and no chromosomal abnormality has been found. Nevertheless, familial studies suggest that the trait is inherited as an autosomal dominant.
(12 Dec 1998)
Noonan's syndrome <syndrome> The male phenotype of Turner's syndrome, characterised by congenital heart disease, especially pulmonary stenosis, pigeon breast, webbing of the neck, antimongoloid slanting of the palpebrae, and other less regular minor features; autosomal dominant inheritance. It is equally common in males and in females; hence the alternative designation "Male Turner's syndrome" (because of its similarity to the XO karyotype) is confusing.
Nothnagel's syndrome, dizziness, staggering, and rolling gait, with irregular forms of oculomotor paralysis and often nystagmus, seen in cases of tumour of the midbrain.
Nystagmus blockage syndrome, strabismus with eyes and head in a position to minimise associated nystagmus.
(05 Mar 2000)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 1 ÆäÀÌÁö: 1
  • Noonan Syndrome - »õâ 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 the non-receptor type 11 PROTEIN TYROSINE PHOSPHATASE. 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).
    Synonyms : Female Pseudo-Turner Syndrome, Turner's Syndrome, Male, Female Pseudo Turner Syndrome, Female Pseudo-Turner Syndromes, Male Turner Syndrome, Male Turner's Syndrome, Pseudo-Turner Syndrome, Female, Pseudo-Turner Syndromes, Female, Syndrome, Female Pseudo-Turner
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Noonan's syndrome syndrome seen only in males; marked by short stature and lowset ears and subnormal fertility
Ãâó: wordnet.princeton.edu/perl/webwn
Noonan's s. the phenotype of Turner's syndrome (webbed neck, ptosis, hypogonadism, congenital heart disease, and short stature) without gonadal dysgenesis; formerly called male Turner's syndrome until the female counterpart was identified. Called also Ullrich-Turner s.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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Noonan syndrome seen only in males
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