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Noonan produced a paper titled "Hypertelorism with Turner Phenotype" in 1968 where she studied 19 patients who displayed symptoms indicative of Noonan's Syndrome. [47] In 1971, at the Symposium of Cardiovascular defects, the name "Noonan syndrome" became officially recognized.
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]
Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
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 ...
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]
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.
When present at birth, it can be an indication of Turner syndrome [1] or Noonan syndrome. It can also be acquired through fracture or other trauma. The physiological cubitus valgus varies from 3° to 29°. Women usually have a more pronounced Cubitus valgus than men.
n/a Ensembl ENSG00000185960 n/a UniProt O15266 n/a RefSeq (mRNA) n/a n/a RefSeq (protein) NP_000442 NP_006874 n/a Location (UCSC) n/a n/a PubMed search n/a Wikidata View/Edit Human The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present ...