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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] Facial features include widely spaced eyes , light-colored eyes, low-set ears , a short neck, and a small lower jaw . [ 1 ]
Syndrome Cause cardiac signs and symptoms Other symptoms or organs affected Notes 1q21.1 deletion syndrome: genetic (Chromosome 1)Cardiovascular anomalies are present in 30% of the cases (for example anomalous origin of the coronary artery in "Class II-deletion")
Legg–Calvé–Perthes disease; Legius syndrome; Leiner's disease; Lelis syndrome; Lemierre's syndrome; Lennox–Gastaut syndrome; Lenz microphthalmia syndrome; Lenz–Majewski syndrome; Leriche's syndrome; Leschke syndrome; Lesch–Nyhan syndrome; Lethal congenital contracture syndrome; Lethal white syndrome
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 ...
A number of genetic conditions are associated with heart defects, including Down syndrome, Turner syndrome, and Marfan syndrome. [3] Congenital heart defects are divided into two main groups: cyanotic heart defects and non-cyanotic heart defects, depending on whether the child has the potential to turn bluish in color. [3]
A number of genetic conditions are associated with heart defects including Down syndrome, Turner syndrome, and Marfan syndrome. [100] Congenital heart defects are divided into two main groups: cyanotic heart defects and non-cyanotic heart defects, depending on whether the child has the potential to turn bluish in color. [100]
Legius syndrome, also known as NF1-like 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 ...
Jacqueline Noonan (born 1928) – 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