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Cardiofaciocutaneous (CFC) syndrome - CFC syndrome is very similar to Noonan's Syndrome due to similar cardiac and lymphatic features. However, In CFC syndrome intellectual disability and gastrointestinal problems are often more severe and pronounced.
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 ...
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 .
Noonan's syndrome; Cornelia de Lange's syndrome; These single-gene disorders are usually associated with atypical physical characteristics. About 1/4 of individuals with intellectual disability have a detectable chromosomal abnormality.
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 ]
Autistic supremacism, also referred to as Aspie supremacism (in reference to Asperger syndrome), is an ideological school of thought followed within certain segments of the autism community, suggesting that individuals formerly diagnosed with Asperger syndrome possess superior traits compared to both neurotypical individuals and other autistic ...
Down syndrome [3] Turner syndrome; Noonan syndrome [4] Patau syndrome [5] DiGeorge syndrome [6] Cri du chat syndrome; Edwards syndrome; Fragile X syndrome; Okamoto syndrome; It is usually bilateral, but it can be unilateral (one sided) in Goldenhar syndrome. [7]