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Xu, R. Noonan Syndrome with Multiple Lentigines. Encyclopedia. Available online: https://encyclopedia.pub/entry/4630 (accessed on 29 September 2026).
Xu R. Noonan Syndrome with Multiple Lentigines. Encyclopedia. Available at: https://encyclopedia.pub/entry/4630. Accessed September 29, 2026.
Xu, Rita. "Noonan Syndrome with Multiple Lentigines" Encyclopedia, https://encyclopedia.pub/entry/4630 (accessed September 29, 2026).
Xu, R. (2020, December 24). Noonan Syndrome with Multiple Lentigines. In Encyclopedia. https://encyclopedia.pub/entry/4630
Xu, Rita. "Noonan Syndrome with Multiple Lentigines." Encyclopedia. Web. 24 December, 2020.
Noonan Syndrome with Multiple Lentigines
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/noonan-syndrome-with-multiple-lentigines

Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. As the condition name suggests, Noonan syndrome with multiple lentigines is very similar to a condition called Noonan syndrome, and it can be difficult to tell the two disorders apart in early childhood. However, the features of these two conditions differ later in life. The characteristic features of Noonan syndrome with multiple lentigines include brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes (ocular hypertelorism), a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and short stature. These features vary, however, even among affected individuals in the same family. Not all individuals with Noonan syndrome with multiple lentigines have all the characteristic features of this condition.

genetic conditions

References

  1. Kato H, Yoshida R, Tsukamoto K, Suga H, Eto H, Higashino T, Araki J, Ogata T, Yoshimura K. Familial cases of atypical clinical features genetically diagnosedas LEOPARD syndrome (multiple lentigines syndrome). Int J Dermatol. 2010Oct;49(10):1146-51. doi: 10.1111/j.1365-4632.2010.04559.x.
  2. Limongelli G, Pacileo G, Marino B, Digilio MC, Sarkozy A, Elliott P, Versacci P, Calabro P, De Zorzi A, Di Salvo G, Syrris P, Patton M, McKenna WJ,Dallapiccola B, Calabro R. Prevalence and clinical significance of cardiovascularabnormalities in patients with the LEOPARD syndrome. Am J Cardiol. 2007 Aug15;100(4):736-41.
  3. Nishi E, Mizuno S, Nanjo Y, Niihori T, Fukushima Y, Matsubara Y, Aoki Y, KoshoT. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome withmultiple lentigines. Am J Med Genet A. 2015 Feb;167A(2):407-11. doi:10.1002/ajmg.a.36842.
  4. Santoro C, Pacileo G, Limongelli G, Scianguetta S, Giugliano T, Piluso G,Ragione FD, Cirillo M, Mirone G, Perrotta S. LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. BMC Med Genet. 2014 Apr 26;15:44. doi: 10.1186/1471-2350-15-44.
  5. Sarkozy A, Digilio MC, Dallapiccola B. Leopard syndrome. Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Review.
  6. Stevenson DA, Schill L, Schoyer L, Andresen BS, Bakker A, Bayrak-Toydemir P,Burkitt-Wright E, Chatfield K, Elefteriou F, Elgersma Y, Fisher MJ, Franz D, GelbBD, Goriely A, Gripp KW, Hardan AY, Keppler-Noreuil KM, Kerr B, Korf B, Leoni C, McCormick F, Plotkin SR, Rauen KA, Reilly K, Roberts A, Sandler A, Siegel D,Walsh K, Widemann BC. The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. Am J Med Genet A. 2016 Aug;170(8):1959-66. doi:10.1002/ajmg.a.37723.
  7. Yu ZH, Zhang RY, Walls CD, Chen L, Zhang S, Wu L, Liu S, Zhang ZY. Molecularbasis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.Biochemistry. 2014 Jul 1;53(25):4136-51. doi: 10.1021/bi5002695.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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