Noonan syndrome (NS)
A multifaceted genetic disorder characterized by a series of birth defects (congenital malformations) including dysmorphic (malformed) facial features, short stature after birth (postnatal growth retardation), webbing of the neck (pterygium colli), caved-in chestbone (pectus excavatum), cardiovascular problems (pulmonic stenosis and hypertrophic cardiomyopathy), bleeding tendency and, in boys, testes that do not descend normally into the scrotum (cryptorchidism). NS is an autosomal dominant disorder that carries an elevated risk of developmental and language delay, learning disability, hearing loss, and mild mental retardation. The syndrome is relatively common, with an estimated incidence of 1 in 1,000–2,500 live births. A gene for NS has been mapped to chromosome 12q24.1. More than 50% of cases are due to missense mutations in PTPN11, a gene encoding the nonreceptor protein tyrosine phosphatase SHP-2. Noonan syndrome may, it is thought, be due to excessive SHP-2 activity.

Medical dictionary. 2011.

Look at other dictionaries:

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  • Noonan syndrome — noun A relatively common autosomal dominant congenital disorder, a form of dwarfism accompanied by heart defect, learning difficulties, and a characteristic facial appearance …   Wiktionary

  • Syndrome de noonan — Autre nom Syndrome Pseudo Turner Référence MIM …   Wikipédia en Français

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  • Syndrome de Noonan — Référence MIM 163950 609942 Transmission Dominante Chromosome 12q24.1 12p12.1 2p22 p21 Gène …   Wikipédia en Français

  • Syndrome de Williams — Classification et ressources externes CIM 10 Q93.8 CIM 9 758.9 OMIM …   Wikipédia en Français

  • Syndrome d'Alagille — Référence MIM 118450 Transmission Dominante Chromosome 20p12 1p13 p11 Gène JAG1 NOTCH2 Empreinte parentale Non …   Wikipédia en Français

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