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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 ]
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 ...
In the case of Noonan syndrome, mutations are broadly distributed throughout the coding region of the gene but all appear to result in hyper-activated, or unregulated mutant forms of the protein. Most of these mutations disrupt the binding interface between the N-SH2 domain and catalytic core necessary for the enzyme to maintain its auto ...
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 is an autosomal dominant multisystem disorder characterized by a wide phenotypic spectrum including distinctive facial dysmorphism, postnatal growth retardation, short stature, ectodermal and skeletal defects, congenital heart anomalies, renal anomalies, lymphatic malformations, bleeding difficulties and variable cognitive deficits.
One example is Spaceflight-Associated Neuro-Ocular Syndrome (SANS), linked to vision impairment due to microgravity-induced fluid shifts and changes in intracranial pressure affecting the eyes.
Medical genetics: A webbed neck, or pterygium colli, ... It is a feature of Turner syndrome [1] (only found in girls) and Noonan syndrome, [2] ...
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 .