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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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVOvergrowth syndrome

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Syndromic disease
      - Overgrowth syndrome
        11p15.4 microduplication syndrome
        Bannayan-Riley-Ruvalcaba syndrome
        Beckwith-Wiedemann syndrome
        Beckwith-Wiedemann syndrome due to 11p15 microdeletion
        Beckwith-Wiedemann syndrome due to 11p15 microduplication
        Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
        Beckwith-Wiedemann syndrome due to CDKN1C mutation
        Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
        Beckwith-Wiedemann syndrome due to NSD1 mutation
        Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
        CLAPO syndrome
        Diabetic embryopathy
        Enchondromatosis
        Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
        Hypoinsulinemic hypoglycemia and body hemihypertrophy
        Isolated hemihyperplasia
        Luscan-Lumish syndrome
        Maffucci syndrome
        Malan overgrowth syndrome
        Marshall-Smith syndrome
        Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
        Neuroectodermal melanolysosomal disease
        Perlman syndrome
        Proteus syndrome
        Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
        Simpson-Golabi-Behmel syndrome
        Simpson-Golabi-Behmel syndrome type 1
        Simpson-Golabi-Behmel syndrome type 2
        Sotos syndrome
        Sturge-Weber syndrome
        Tatton-Brown-Rahman overgrowth syndrome
        Weaver syndrome

Professional guidelines

PubMed

Contemporary management of extracranial vascular malformations.

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

Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth.

Schönewolf-Greulich B, Karstensen HG, Hjortshøj TD, Jørgensen FS, Harder KM, Frevert S, Hove H, Diness BR
Eur J Med Genet 2022 Oct;65(10):104590. Epub 2022 Aug 11 doi: 10.1016/j.ejmg.2022.104590. PMID: 35964931

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

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

See all (7)

Recent clinical studies

Etiology

Gastrointestinal toxicity of systemic oncology immunotherapy.

Bureš J, Kohoutová D, Zavoral M
Klin Onkol 2022 Fall;35(5):346-357. doi: 10.48095/ccko2022346. PMID: 36443091

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.

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: 34238334 Free PMC Article

Vascular malformations syndromes: an update.

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

Imprinted disorders and growth.

Giabicani É, Brioude F, Le Bouc Y, Netchine I
Ann Endocrinol (Paris) 2017 Jun;78(2):112-113. Epub 2017 May 4 doi: 10.1016/j.ando.2017.04.010. PMID: 28478949

Beckwith-Wiedemann syndrome.

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

See all (123)

Diagnosis

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.

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: 34238334 Free PMC Article

Genetics of Neonatal Hypoglycaemia.

Zoledziewska M
Pediatr Endocrinol Rev 2020 Jun;17(3):257-267. doi: 10.17458/per.vol17.2020.z.geneticsneonatalhypoglycaemia. PMID: 32741157

The importance of lactose intolerance in individuals with gastrointestinal symptoms.

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

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

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: 28475857 Free PMC Article

Small intestinal bacterial overgrowth syndrome.

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: 20572300 Free PMC Article

See all (208)

Therapy

Gastrointestinal toxicity of systemic oncology immunotherapy.

Bureš J, Kohoutová D, Zavoral M
Klin Onkol 2022 Fall;35(5):346-357. doi: 10.48095/ccko2022346. PMID: 36443091

Vascular malformations syndromes: an update.

Overgrowth Syndrome.

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: 31103180 Free PMC Article

Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

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: 29899452 Free PMC Article

Maldigestion from pancreatic exocrine insufficiency.

Pongprasobchai S
J Gastroenterol Hepatol 2013 Dec;28 Suppl 4:99-102. doi: 10.1111/jgh.12406. PMID: 24251713

See all (41)

Prognosis

Venous Anomalies in Overgrowth Syndromes.

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

Gastrointestinal toxicity of systemic oncology immunotherapy.

Bureš J, Kohoutová D, Zavoral M
Klin Onkol 2022 Fall;35(5):346-357. doi: 10.48095/ccko2022346. PMID: 36443091

Beckwith-Wiedemann Syndrome Review: A Guide for the Neonatal Nurse.

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

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Small intestinal bacterial overgrowth syndrome.

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: 20572300 Free PMC Article

See all (65)

Clinical prediction guides

Venous Anomalies in Overgrowth Syndromes.

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

New Metabolic, Digestive, and Oxidative Stress-Related Manifestations Associated with Posttraumatic Stress Disorder.

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: 34966477 Free PMC Article

Overgrowth Syndrome.

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: 31103180 Free PMC Article

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Simpson-Golabi-Behmel syndrome types I and II.

Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P
Orphanet J Rare Dis 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. PMID: 25238977 Free PMC Article

See all (95)

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Overgrowth syndrome

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

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