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Page 1
Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies.
Perrino MR, Das A, Scollon SR, Mitchell SG, Greer MC, Yohe ME, Hansford JR, Kalish JM, Schultz KAP, MacFarland SP, Kohlmann WK, Lupo PJ, Maxwell KN, Pfister SM, Weksberg R, Michaeli O, Jongmans MCJ, Tomlinson GE, Brzezinski J, Tabori U, Ney GM, Gripp KW, Gross AM, Widemann BC, Stewart DR, Woodward ER, Kratz CP. Perrino MR, et al. Clin Cancer Res. 2024 Nov 1;30(21):4834-4843. doi: 10.1158/1078-0432.CCR-24-1611. Clin Cancer Res. 2024. PMID: 39196581 Free PMC article. Review.
Neurofibromatosis type 1 (NF1), Noonan syndrome, and related syndromes, grouped as RASopathies, result from dysregulation of the RAS-MAPK pathway and demonstrate varied multisystemic clinical phenotypes. ...
Neurofibromatosis type 1 (NF1), Noonan syndrome, and related syndromes, grouped as RASopathies, result from dysregulation of the RAS- …
HRAS-Related Costello Syndrome.
Gripp KW, Weaver KN. Gripp KW, et al. 2006 Aug 29 [updated 2026 May 21]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2006 Aug 29 [updated 2026 May 21]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301680 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: While the majority of individuals with HRAS-related Costello syndrome (Costello syndrome) share characteristic findings affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a mild or attenuated pheno …
CLINICAL CHARACTERISTICS: While the majority of individuals with HRAS-related Costello syndrome (Costello syndrome …
Costello syndrome.
Philip N, Sigaudy S. Philip N, et al. J Med Genet. 1998 Mar;35(3):238-40. doi: 10.1136/jmg.35.3.238. J Med Genet. 1998. PMID: 9541110 Free PMC article. Review.
Costello syndrome is characterised by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, and fingers, dark skin, acanthosis nigricans, and papillomata. ...The pathogenesis and molecular basis of the syndrome are unknown and …
Costello syndrome is characterised by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, an …
Multidisciplinary Management of Costello Syndrome: Current Perspectives.
Leoni C, Viscogliosi G, Tartaglia M, Aoki Y, Zampino G. Leoni C, et al. J Multidiscip Healthc. 2022 Jun 2;15:1277-1296. doi: 10.2147/JMDH.S291757. eCollection 2022. J Multidiscip Healthc. 2022. PMID: 35677617 Free PMC article. Review.
Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations in HRAS. ...
Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations in HRAS. ...
Cancer in Costello syndrome: a systematic review and meta-analysis.
Astiazaran-Symonds E, Ney GM, Higgs C, Oba L, Srivastava R, Livinski AA, Rosenberg PS, Stewart DR. Astiazaran-Symonds E, et al. Br J Cancer. 2023 Jun;128(11):2089-2096. doi: 10.1038/s41416-023-02229-7. Epub 2023 Mar 25. Br J Cancer. 2023. PMID: 36966234 Free PMC article.
BACKGROUND: Costello syndrome (CS) is a cancer-predisposition disorder caused by germline pathogenic variants in HRAS. ...
BACKGROUND: Costello syndrome (CS) is a cancer-predisposition disorder caused by germline pathogenic variants in HRAS. ...
The RASopathies.
Rauen KA. Rauen KA. Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. Annu Rev Genomics Hum Genet. 2013. PMID: 23875798 Free PMC article. Review.
These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation-arteriovenous malformation syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, and Legius syn …
These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malform …
Faciocutaneoskeletal Syndrome (Costello Syndrome).
Ngulube MM, Sharma S. Ngulube MM, et al. 2025 Feb 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. 2025 Feb 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. PMID: 40198060 Free Books & Documents.
Costello syndrome is an autosomal dominant genetic condition and is one of the rarer RASopathies. ...Costello syndrome has no sex predisposition, so males and females are equally affected. ...
Costello syndrome is an autosomal dominant genetic condition and is one of the rarer RASopathies. ...Costello syndro …
The RASopathies: from pathogenetics to therapeutics.
Hebron KE, Hernandez ER, Yohe ME. Hebron KE, et al. Dis Model Mech. 2022 Feb 1;15(2):dmm049107. doi: 10.1242/dmm.049107. Epub 2022 Feb 18. Dis Model Mech. 2022. PMID: 35178568 Free PMC article. Review.
These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome and Legius syndrome, among others, have overlapping clinical features due to RAS/MAPK dysfunction. ...
These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndro …
Costello syndrome: an overview.
Hennekam RC. Hennekam RC. Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):42-8. doi: 10.1002/ajmg.c.10019. Am J Med Genet C Semin Med Genet. 2003. PMID: 12561057 Review.
The Costello syndrome is characterized by prenatally increased growth, postnatal growth retardation, coarse face, loose skin resembling cutis laxa, nonprogressive cardiomyopathy, developmental delay, and a outgoing, friendly behavior. Patients can develop papillomat …
The Costello syndrome is characterized by prenatally increased growth, postnatal growth retardation, coarse face, loose skin r …
Clinical overview on RASopathies.
Zenker M. Zenker M. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):414-424. doi: 10.1002/ajmg.c.32015. Epub 2022 Nov 25. Am J Med Genet C Semin Med Genet. 2022. PMID: 36428239 Review.
RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS-MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway. Noonan syndrome and the less f …
RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulato …
1,028 results