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Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [1]
Jacqueline Anne Noonan (October 28, 1928 – July 23, 2020) was an American pediatric cardiologist best known for her characterization of a genetic disorder now called Noonan syndrome. [ 1 ] [ 2 ] She was also the original describer of hypoplastic left heart syndrome .
Noonan syndrome with multiple lentigines (NSML), formerly called LEOPARD syndrome SYNGAP1-related intellectual disability Somatic mutations in the Ras/MAPK pathway can cause cancers and disorders such as RAS-associated autoimmune leukoproliferative disorder (RALD) or juvenile myelomonocytic leukemia (JMML).
Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, [2] is a rare autosomal dominant, [3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene . The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular ...
Long QT syndrome: Lutembacher's syndrome: Malpuech facial clefting syndrome: Marden–Walker syndrome: Marfan syndrome: McKusick–Kaufman syndrome: McLeod syndrome: Noonan syndrome: Noonan syndrome with multiple lentigines: Ortner's syndrome: Bouveret Hoffmann syndrome: another name for "Paroxysmal tachycardia" Patau syndrome: genetic ...
It is a feature of Turner syndrome [1] (only found in girls) and Noonan syndrome, [2] as well as the rarer Klippel–Feil syndrome, [3] or Diamond–Blackfan anemia. [ 4 ] References
"A Certain Idea of America: Selected Writings" by Peggy Noonan (Portfolio), in Hardcover, eBook and Audio formats, available November 19Peggy Noonan, Wall Street Journal Extended interview: Cher
N syndrome; N-Acetylglutamate synthase deficiency; N-acetyl-alpha-D-galactosaminidase; N-acetyl-glucosamine-6-sulfate sulfatase deficiency; NADH CoQ reductase, deficiency of; NADH cytochrome B5 reductase deficiency; Naegeli–Franceschetti–Jadassohn syndrome; Naguib syndrome; Nail–patella syndrome; Nakajo–Nishimura syndrome; Nakajo syndrome