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Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, ...
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 ...
CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder and is thought to be caused by mutations of the NOTCH3 gene on chromosome 19. [1] The disease belongs to a family of disorders called the leukodystrophies.
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).
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 .
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
Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986. It was first described in 1986. [ 2 ] [ 3 ] [ 4 ]
PVS was the key finding that led Jacqueline Noonan to identify the syndrome now called Noonan syndrome. Symptoms and signs. Cyanosis.