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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

Alcedo González J, Estremera-Arévalo F, Cobián Malaver J, Santos Vicente J, Alcalá-González LG, Naves J, Barba Orozco E, Barber Caselles C, Serrano-Falcón B, Accarino Garaventa A, Alonso-Cotoner C, Serra Pueyo J
Gastroenterol Hepatol 2025 Feb;48(2):502216. Epub 2024 Jun 7 doi: 10.1016/j.gastrohep.2024.502216. PMID: 38852778
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

Recent clinical studies

Etiology

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
Zammit M, Caruana E, Cassar D, Calleja-Agius J
Neonatal Netw 2017 May 1;36(3):129-133. doi: 10.1891/0730-0832.36.3.129. PMID: 28494824
Tarnopolsky MA, Pearce E, Matteliano A, James C, Armstrong D
Muscle Nerve 2010 Dec;42(6):853-5. doi: 10.1002/mus.21787. PMID: 21104859
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
Sherman P, Lichtman S
Dig Dis 1987;5(3):157-71. doi: 10.1159/000171170. PMID: 3311488

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
Zammit M, Caruana E, Cassar D, Calleja-Agius J
Neonatal Netw 2017 May 1;36(3):129-133. doi: 10.1891/0730-0832.36.3.129. PMID: 28494824
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
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

Therapy

Bureš J, Kohoutová D, Zavoral M
Klin Onkol 2022 Fall;35(5):346-357. doi: 10.48095/ccko2022346. PMID: 36443091
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
Tarnopolsky MA, Pearce E, Matteliano A, James C, Armstrong D
Muscle Nerve 2010 Dec;42(6):853-5. doi: 10.1002/mus.21787. PMID: 21104859
Benedetti E, Panaro F, Holterman M, Abcarian H
Best Pract Res Clin Gastroenterol 2003 Dec;17(6):1017-40. doi: 10.1016/s1521-6918(03)00081-7. PMID: 14642863

Prognosis

Bureš J, Kohoutová D, Zavoral M
Klin Onkol 2022 Fall;35(5):346-357. doi: 10.48095/ccko2022346. PMID: 36443091
Zammit M, Caruana E, Cassar D, Calleja-Agius J
Neonatal Netw 2017 May 1;36(3):129-133. doi: 10.1891/0730-0832.36.3.129. PMID: 28494824
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
Tarnopolsky MA, Pearce E, Matteliano A, James C, Armstrong D
Muscle Nerve 2010 Dec;42(6):853-5. doi: 10.1002/mus.21787. PMID: 21104859
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

Santiago J, Chaudry G
Tech Vasc Interv Radiol 2024 Jun;27(2):100962. Epub 2024 Jun 14 doi: 10.1016/j.tvir.2024.100962. PMID: 39168551
Thomas H, Alix T, Renard É, Renaud M, Wourms J, Zuily S, Leheup B, Geneviève D, Dreumont N, Schmitt E, Bronner M, Muller M, Divoux M, Wandzel M, Ravel JM, Dexheimer M, Becker A, Roth V, Willems M, Coubes C, Vieville G, Devillard F, Schaefer É, Baer S, Piton A, Gérard B, Vincent M, Nizon M, Cogné B, Ruaud L, Couque N, Putoux A, Edery P, Lesca G, Chatron N, Till M, Faivre L, Tran-Mau-Them F, Alessandri JL, Lebrun M, Quélin C, Odent S, Dubourg C, David V, Faoucher M, Mignot C, Keren B, Pisan É, Afenjar A, Julia S, Bieth É, Banneau G, Goldenberg A, Husson T, Campion D, Lecoquierre F, Nicolas G, Charbonnier C, De Saint Martin A, Naudion S, Degoutin M, Rondeau S, Michot C, Cormier-Daire V, Oussalah A, Pourié C, Lambert L, Bonnet C
J Med Genet 2024 Aug 29;61(9):878-885. doi: 10.1136/jmg-2024-110031. PMID: 38937076
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
Kivilevitch Z, Achiron R, Perlman S, Gilboa Y
J Ultrasound Med 2017 Oct;36(10):1997-2005. Epub 2017 May 16 doi: 10.1002/jum.14233. PMID: 28509414
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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