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Overgrowth syndrome

MedGen UID:
458929
Concept ID:
C2986703
Disease or Syndrome
Synonyms: Overgrowth Syndrome; overgrowth syndrome
 
Monarch Initiative: MONDO:0019716
Orphanet: ORPHA93460

Definition

A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome. [from NCI]

Professional guidelines

PubMed

Bertino FJ, Hawkins CM
Pediatr Radiol 2023 Jul;53(8):1600-1617. Epub 2023 May 9 doi: 10.1007/s00247-023-05670-1. PMID: 37156889
Magini P, Palombo F, Boito S, Lanzoni G, Mongelli P, Rizzuti T, Baccarin M, Pippucci T, Seri M, Lalatta F
Am J Med Genet A 2016 Dec;170(12):3258-3264. Epub 2016 Sep 9 doi: 10.1002/ajmg.a.37873. PMID: 27612164
Barboza JL, Okun MS, Moshiree B
Expert Opin Pharmacother 2015;16(16):2449-64. Epub 2015 Sep 16 doi: 10.1517/14656566.2015.1086747. PMID: 26374094

Recent clinical studies

Etiology

Bureš J, Kohoutová D, Zavoral M
Klin Onkol 2022 Fall;35(5):346-357. doi: 10.48095/ccko2022346. PMID: 36443091
Canaud G, Hammill AM, Adams D, Vikkula M, Keppler-Noreuil KM
Orphanet J Rare Dis 2021 Jul 8;16(1):306. doi: 10.1186/s13023-021-01929-8. PMID: 34238334Free PMC Article
Martinez-Lopez A, Salvador-Rodriguez L, Montero-Vilchez T, Molina-Leyva A, Tercedor-Sanchez J, Arias-Santiago S
Curr Opin Pediatr 2019 Dec;31(6):747-753. doi: 10.1097/MOP.0000000000000812. PMID: 31693582
Fontanella F, Maggio L, Verheij JBGM, Duin LK, Adama Van Scheltema PN, Cohen-Overbeek TE, Pajkrt E, Bekker M, Willekes C, Bax CJ, Gracchi V, Oepkes D, Bilardo CM
Ultrasound Obstet Gynecol 2019 Jun;53(6):779-787. doi: 10.1002/uog.19182. PMID: 30043466Free PMC Article
Weksberg R, Shuman C, Smith AC
Am J Med Genet C Semin Med Genet 2005 Aug 15;137C(1):12-23. doi: 10.1002/ajmg.c.30058. PMID: 16010676

Diagnosis

Canaud G, Hammill AM, Adams D, Vikkula M, Keppler-Noreuil KM
Orphanet J Rare Dis 2021 Jul 8;16(1):306. doi: 10.1186/s13023-021-01929-8. PMID: 34238334Free PMC Article
Martínez Vázquez SE, Nogueira de Rojas JR, Remes Troche JM, Coss Adame E, Rivas Ruíz R, Uscanga Domínguez LF
Rev Gastroenterol Mex (Engl Ed) 2020 Jul-Sep;85(3):321-331. Epub 2020 May 29 doi: 10.1016/j.rgmx.2020.03.002. PMID: 32482516
Martinez-Lopez A, Salvador-Rodriguez L, Montero-Vilchez T, Molina-Leyva A, Tercedor-Sanchez J, Arias-Santiago S
Curr Opin Pediatr 2019 Dec;31(6):747-753. doi: 10.1097/MOP.0000000000000812. PMID: 31693582
Martinez-Lopez A, Blasco-Morente G, Perez-Lopez I, Herrera-Garcia JD, Luque-Valenzuela M, Sanchez-Cano D, Lopez-Gutierrez JC, Ruiz-Villaverde R, Tercedor-Sanchez J
Clin Genet 2017 Jan;91(1):14-21. Epub 2016 Aug 3 doi: 10.1111/cge.12832. PMID: 27426476
Bures J, Cyrany J, Kohoutova D, Förstl M, Rejchrt S, Kvetina J, Vorisek V, Kopacova M
World J Gastroenterol 2010 Jun 28;16(24):2978-90. doi: 10.3748/wjg.v16.i24.2978. PMID: 20572300Free PMC Article

Therapy

Bureš J, Kohoutová D, Zavoral M
Klin Onkol 2022 Fall;35(5):346-357. doi: 10.48095/ccko2022346. PMID: 36443091
Martinez-Lopez A, Salvador-Rodriguez L, Montero-Vilchez T, Molina-Leyva A, Tercedor-Sanchez J, Arias-Santiago S
Curr Opin Pediatr 2019 Dec;31(6):747-753. doi: 10.1097/MOP.0000000000000812. PMID: 31693582
Li Y, Donnelly CG, Rivera RM
Vet Clin North Am Food Anim Pract 2019 Jul;35(2):265-276. doi: 10.1016/j.cvfa.2019.02.007. PMID: 31103180Free PMC Article
Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G
Nature 2018 Jun;558(7711):540-546. Epub 2018 Jun 13 doi: 10.1038/s41586-018-0217-9. PMID: 29899452Free PMC Article
Barboza JL, Okun MS, Moshiree B
Expert Opin Pharmacother 2015;16(16):2449-64. Epub 2015 Sep 16 doi: 10.1517/14656566.2015.1086747. PMID: 26374094

Prognosis

Bureš J, Kohoutová D, Zavoral M
Klin Onkol 2022 Fall;35(5):346-357. doi: 10.48095/ccko2022346. PMID: 36443091
Oroian BA, Ciobica A, Timofte D, Stefanescu C, Serban IL
Oxid Med Cell Longev 2021;2021:5599265. Epub 2021 Dec 20 doi: 10.1155/2021/5599265. PMID: 34966477Free PMC Article
Gawliński P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Różdżyńska-Świątkowska A, Dawidziuk M, Coban-Akdemir ZH, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M
Clin Genet 2018 Apr;93(4):919-924. doi: 10.1111/cge.13192. PMID: 29226947
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration, Mahamdallie S, Seal S, Ruark E, Rahman N
Am J Hum Genet 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. PMID: 28475857Free PMC Article
Bures J, Cyrany J, Kohoutova D, Förstl M, Rejchrt S, Kvetina J, Vorisek V, Kopacova M
World J Gastroenterol 2010 Jun 28;16(24):2978-90. doi: 10.3748/wjg.v16.i24.2978. PMID: 20572300Free PMC Article

Clinical prediction guides

Li Y, Sena Lopes J, Coy-Fuster P, Rivera RM
Epigenetics 2022 Nov;17(11):1477-1496. Epub 2022 May 3 doi: 10.1080/15592294.2022.2067938. PMID: 35466858Free PMC Article
Oroian BA, Ciobica A, Timofte D, Stefanescu C, Serban IL
Oxid Med Cell Longev 2021;2021:5599265. Epub 2021 Dec 20 doi: 10.1155/2021/5599265. PMID: 34966477Free PMC Article
Sassi H, Elaribi Y, Jilani H, Rejeb I, Hizem S, Sebai M, Kasdallah N, Bouthour H, Hannachi S, Beygo J, Saad A, Buiting K, H'mida Ben-Brahim D, BenJemaa L
Mol Genet Genomic Med 2021 Oct;9(10):e1796. Epub 2021 Sep 12 doi: 10.1002/mgg3.1796. PMID: 34510813Free PMC Article
Li Y, Donnelly CG, Rivera RM
Vet Clin North Am Food Anim Pract 2019 Jul;35(2):265-276. doi: 10.1016/j.cvfa.2019.02.007. PMID: 31103180Free PMC Article
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration, Mahamdallie S, Seal S, Ruark E, Rahman N
Am J Hum Genet 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. PMID: 28475857Free PMC Article

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