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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 .
Capillary malformation-AV malformation syndrome (CV-AVM) Cardiofaciocutaneous syndrome (CFC) Neurofibromatosis type I (NF1) Noonan syndrome (NS) Costello syndrome (CS) Legius syndrome, also known as NF1-like syndrome; Noonan syndrome with multiple lentigines (NSML), formerly called LEOPARD syndrome; SYNGAP1-related intellectual disability
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 ...
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [2] Mild to moderate intellectual disability is observed, particularly challenges with visual spatial tasks such as ...
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
Jacqueline Noonan (1928–2020), discoverer of Noonan syndrome that is the top syndromic cause of congenital heart disease John Parkinson (1885–1976), known for Wolff–Parkinson–White syndrome Helen B. Taussig (1898–1986), founder of pediatric cardiology and extensively worked on blue baby syndrome