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Noonan-like syndrome

MedGen UID:
371740
•Concept ID:
C1834120
•
Disease or Syndrome
Synonyms: Noonan like syndrome; Noonan Syndrome With Pigmented Villonodular Synovitis; Noonan-like-multiple giant cell lesion syndrome

Professional guidelines

PubMed

Dermatological manifestations, management, and care in RASopathies.
Kavamura MI, Leoni C, Neri G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):452-458. Epub 2022 Dec 21 doi: 10.1002/ajmg.c.32027. PMID: 36541891

Recent clinical studies

Etiology

Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
Boleti O, Norrish G, Field E, Dady K, Summers K, Nepali G, Bhole V, Uzun O, Wong A, Daubeney PEF, Stuart G, Fernandes P, McLeod K, Ilina M, Ali MNL, Bharucha T, Donne GD, Brown E, Linter K, Jones CB, Searle J, Regan W, Mathur S, Boyd N, Reinhardt Z, Duignan S, Prendiville T, Adwani S, Kaski JP
ESC Heart Fail 2024 Apr;11(2):923-936. Epub 2024 Jan 13 doi: 10.1002/ehf2.14637. PMID: 38217456Free PMC Article
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
Davico C, D'Alessandro R, Borgogno M, Campagna F, Torta F, Ricci F, Amianto F, Vittorini R, Carli D, Mussa A, Vitiello B, Ferrero GB
Eur J Pediatr 2022 Aug;181(8):2919-2926. Epub 2022 May 16 doi: 10.1007/s00431-022-04497-6. PMID: 35575813
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
Tajan M, Paccoud R, Branka S, Edouard T, Yart A
Endocr Rev 2018 Oct 1;39(5):676-700. doi: 10.1210/er.2017-00232. PMID: 29924299
Recent advances in RASopathies.
Aoki Y, Niihori T, Inoue S, Matsubara Y
J Hum Genet 2016 Jan;61(1):33-9. Epub 2015 Oct 8 doi: 10.1038/jhg.2015.114. PMID: 26446362
Behavioral profile in RASopathies.
Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S
Am J Med Genet A 2014 Apr;164A(4):934-42. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36374. PMID: 24458522

Diagnosis

Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
Boleti O, Norrish G, Field E, Dady K, Summers K, Nepali G, Bhole V, Uzun O, Wong A, Daubeney PEF, Stuart G, Fernandes P, McLeod K, Ilina M, Ali MNL, Bharucha T, Donne GD, Brown E, Linter K, Jones CB, Searle J, Regan W, Mathur S, Boyd N, Reinhardt Z, Duignan S, Prendiville T, Adwani S, Kaski JP
ESC Heart Fail 2024 Apr;11(2):923-936. Epub 2024 Jan 13 doi: 10.1002/ehf2.14637. PMID: 38217456Free PMC Article
Dermatological manifestations, management, and care in RASopathies.
Kavamura MI, Leoni C, Neri G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):452-458. Epub 2022 Dec 21 doi: 10.1002/ajmg.c.32027. PMID: 36541891
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
Davico C, D'Alessandro R, Borgogno M, Campagna F, Torta F, Ricci F, Amianto F, Vittorini R, Carli D, Mussa A, Vitiello B, Ferrero GB
Eur J Pediatr 2022 Aug;181(8):2919-2926. Epub 2022 May 16 doi: 10.1007/s00431-022-04497-6. PMID: 35575813
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, Pisaneschi E, Sirleto P, Capolino R, Baban A, Russo S, Franchin T, Angioni A, Dallapiccola B
BMC Med Genet 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14. PMID: 24451042Free PMC Article
Ras/MAPK syndromes and childhood hemato-oncological diseases.
Aoki Y, Matsubara Y
Int J Hematol 2013 Jan;97(1):30-6. Epub 2012 Dec 19 doi: 10.1007/s12185-012-1239-y. PMID: 23250860

Therapy

A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone.
Zhou P, Zhu L, Fan Q, Liu Y, Zhang T, Yang T, Chen J, Cheng Q, Li T, Chen L
Am J Med Genet A 2020 Aug;182(8):1967-1971. Epub 2020 Jun 1 doi: 10.1002/ajmg.a.61638. PMID: 32476286
Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.
Takasawa K, Takishima S, Morioka C, Nishioka M, Ohashi H, Aoki Y, Shimohira M, Kashimada K, Morio T
Am J Med Genet A 2015 Oct;167A(10):2425-9. Epub 2015 Jun 19 doi: 10.1002/ajmg.a.37191. PMID: 26096762
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
Zmolikova M, Puchmajerova A, Hecht P, Lebl J, Trkova M, Krepelova A
Am J Med Genet A 2014 May;164A(5):1218-21. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36404. PMID: 24458596
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, Pisaneschi E, Sirleto P, Capolino R, Baban A, Russo S, Franchin T, Angioni A, Dallapiccola B
BMC Med Genet 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14. PMID: 24451042Free PMC Article
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).
Mazzanti L, Tamburrino F, Scarano E, Perri A, Vestrucci B, Guidetti M, Rossi C, Tartaglia M
Am J Med Genet A 2013 Nov;161A(11):2756-61. Epub 2013 Oct 3 doi: 10.1002/ajmg.a.36255. PMID: 24124081

Prognosis

Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
Boleti O, Norrish G, Field E, Dady K, Summers K, Nepali G, Bhole V, Uzun O, Wong A, Daubeney PEF, Stuart G, Fernandes P, McLeod K, Ilina M, Ali MNL, Bharucha T, Donne GD, Brown E, Linter K, Jones CB, Searle J, Regan W, Mathur S, Boyd N, Reinhardt Z, Duignan S, Prendiville T, Adwani S, Kaski JP
ESC Heart Fail 2024 Apr;11(2):923-936. Epub 2024 Jan 13 doi: 10.1002/ehf2.14637. PMID: 38217456Free PMC Article
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
Papadopoulos G, Papadopoulou A, Kosma K, Papadimitriou A, Papaevangelou V, Kanaka-Gantenbein C, Bountouvi E, Kitsiou-Tzeli S
Eur J Pediatr 2022 Oct;181(10):3691-3700. Epub 2022 Jul 29 doi: 10.1007/s00431-022-04574-w. PMID: 35904599
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
Davico C, D'Alessandro R, Borgogno M, Campagna F, Torta F, Ricci F, Amianto F, Vittorini R, Carli D, Mussa A, Vitiello B, Ferrero GB
Eur J Pediatr 2022 Aug;181(8):2919-2926. Epub 2022 May 16 doi: 10.1007/s00431-022-04497-6. PMID: 35575813
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.
Guey S, Grangeon L, Brunelle F, Bergametti F, Amiel J, Lyonnet S, Delaforge A, Arnould M, Desnous B, Bellesme C, Hervé D, Schwitalla JC, Kraemer M, Tournier-Lasserve E, Kossorotoff M
J Med Genet 2017 Aug;54(8):550-557. Epub 2017 Mar 25 doi: 10.1136/jmedgenet-2016-104432. PMID: 28343148
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
Zmolikova M, Puchmajerova A, Hecht P, Lebl J, Trkova M, Krepelova A
Am J Med Genet A 2014 May;164A(5):1218-21. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36404. PMID: 24458596

Clinical prediction guides

Human Genetics of Ventricular Septal Defect.
Perrot A, Rickert-Sperling S
Adv Exp Med Biol 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27. PMID: 38884729
Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
Boleti O, Norrish G, Field E, Dady K, Summers K, Nepali G, Bhole V, Uzun O, Wong A, Daubeney PEF, Stuart G, Fernandes P, McLeod K, Ilina M, Ali MNL, Bharucha T, Donne GD, Brown E, Linter K, Jones CB, Searle J, Regan W, Mathur S, Boyd N, Reinhardt Z, Duignan S, Prendiville T, Adwani S, Kaski JP
ESC Heart Fail 2024 Apr;11(2):923-936. Epub 2024 Jan 13 doi: 10.1002/ehf2.14637. PMID: 38217456Free PMC Article
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
Zmolikova M, Puchmajerova A, Hecht P, Lebl J, Trkova M, Krepelova A
Am J Med Genet A 2014 May;164A(5):1218-21. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36404. PMID: 24458596
Behavioral profile in RASopathies.
Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S
Am J Med Genet A 2014 Apr;164A(4):934-42. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36374. PMID: 24458522
Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.
Malaquias AC, Brasil AS, Pereira AC, Arnhold IJ, Mendonca BB, Bertola DR, Jorge AA
Am J Med Genet A 2012 Nov;158A(11):2700-6. Epub 2012 Aug 6 doi: 10.1002/ajmg.a.35519. PMID: 22887833

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