Pediatric Endocrinology Diabetes and Metabolism
en POLSKI
eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
Current issue Archive Manuscripts accepted About the journal Supplements Editorial board Reviewers Abstracting and indexing Subscription Contact Instructions for authors Publication charge Ethical standards and procedures
Editorial System
Submit your Manuscript
SCImago Journal & Country Rank
Search
Editorial Policies
Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

Open access

without publication fees

Journal integrated with

integrated with publons
4/2025
vol. 31
 
Share:
Send email
Share:
Review paper

Dysmorphic syndromes with overgrowth – systematic review.  Part 1 – monogenic syndromes 

Julia Klaudia Gąsiorowska
1
,
Amelia Grundys
1
,
Laura Gawlik
1
,
Weronika Dziamara
1
,
Robert Stanisław Śmigiel
2
,
Beata Wikiera
2

  1. Faculty of Medicine, Wroclaw Medical University, Poland
  2. Department of Paediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wroclaw Medical University, Poland
Pediatr Endocrinol Diabetes Metab 2025; 31 (4): 195-203
DOI: https://doi.org/10.5114/pedm.2025.158547
Online publish date: 2026/01/27
Article file
- 0408_Dysmorphic syndromes.pdf  [2.13 MB]
Get citation
 
PlumX metrics:
 
1. Śmigiel R, Szczałuba K, Krajewska-Walasek M. Dysmorfologia w praktyce pediatrycznej. Standardy Medyczne. Pediatria 2013; 10: 219–227.
2. Cerrolaza JJ, Porras AR, Mansoor A, et al. Identification of dysmorphic syndromes using landmark-specific local texture descriptors. Proc Int Symp Biomed Imaging 2016; 2016: 1080–1083. doi: 10.1109/ISBI.2016.7493453.
3. Borowiec A, Sarwińska M, Pyrżak BE. Zaburzenia wzrastania u dziecka – od pediatry do endokrynologa. Forum Pediatrii Praktycznej 2018. Available at: https://forumpediatrii.pl/artykul/zaburzenia-wzrastania-u-dziecka-od-pediatry-do-endokrynologa.
4. Verge CF, Mowat D. Overgrowth. Arch Dis Child 2010; 95: 458–463. doi: 10.1136/adc.2009.157693.
5. Bishara N, Clericuzio CL. Zespoły dysmorficzne często spotykane w oddziałach intensywnej terapii noworodków. Pediatria po Dyplomie 2009; 13: 70–82. Available at: https://podyplomie.pl/publish/system/articles/pdfarticles/000/012/598/original/70-82.pdf?1473325919 [Access: 7.03.2025].
6. # 117550. SOTOS SYNDROME; SOTOS. Available at: https://omim.org/entry/117550 [Access: 16.07.2025].
7. ORPHA:821. Sotos syndrome. Available at: https://www.orpha.net/en/disease/detail/821 [Access: 24.03.2025].
8. Foster A, Zachariou A, Loveday C, et al. The phenotype of Sotos syndrome in adulthood: a review of 44 individuals. Am J Med Genet C Semin Med Genet 2019; 181: 502–508. doi: 10.1002/ajmg.c.31738.
9. Lourdes VH, Mario SC, Didac CA, et al. Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study. Front Pediatr 2023; 11: 1184529. doi: 10.3389/fped.2023.1184529.
10. Allanson JE. Sotos syndrome: Evolution of facial phenotype subjective and objective assessment. Am J Med Genet 1996; 70: 302–307.
11. Kurotaki N, Imaizumi K, Harada N, et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002; 30: 365–366. doi: 10.1038/ng863.
12. # 130650. BECKWITH-WIEDEMANN SYNDROME; BWS. Available at: https://omim.org/entry/130650 [Access: 24.03.2025].
13. ORPHA:116. Beckwith-Wiedemann syndrome. Available at: https://www.orpha.net/en/disease/detail/116 [Access: 24.03.2025].
14. Borjas Mendoza PA, Daley SF, Mendez MD. Beckwith-Wiedemann Syndrome. 2024 Jan 7. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL) 2025.
15. Shuman C, Kalish JM, Weksberg R. Beckwith-Wiedemann Syndrome. [update: 2000 Mar 3]. In: Adam MP, Bick S, Mirzaa GM, et al. (eds.). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 1993–2025.
16. Mishra D, Chakole V. Beckwith-Wiedemann syndrome. Pan Afr Med J 2023; 45: 17. doi: 10.11604/pamj.2023.45.17.38741. 
17. MedlinePlus. Simpson-Golabi-Behmel syndrome. Available at: https://medlineplus.gov/download/genetics/condition/simpson-golabi-behmel-syndrome.pdf [Access: 21.07.2025].
18. Baker Z, Cowan A, Hannallah A, et al. Bilateral Wilms’ tumor in a female with Simpson-Golabi-Behmel syndrome. Surg Case Rep 2022; 2022: 1–3. doi: 10.31487/j.SCR.2022.08.01.
19. Fernandes C, Paúl A, Venâncio MM, Ramos F. Simpson-Golabi-Behmel syndrome: One family, same mutation, different outcome. Am J Med Genet A 2021; 185: 2502–2506. doi: 10.1002/ajmg.a.62263. 
20. Xiang J, Zhang Q, Song X, et al. Whole exome sequencing aids the diagnosis of Simpson–Golabi–Behmel syndrome in two male fetuses. J Int Med Res 2019; 48: 0300060519859752. doi: 10.1177/0300060519859752.
21. Sha J, Tan F, Liu Y, et al. A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragment at Xq26.2 inherited from mother: Case report. Medicine (Baltimore) 2022; 101: e29222. doi: 10.1097/MD.0000000000029222. 
22. Peng HH, Yu CJ, Chen YC, et al. Prenatal diagnosis of Simpson-Golabi-Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold. Taiwan J Obstet Gynecol 2023; 62: 163–166. doi: 10.1016/j.tjog.2022.06.019.
23. Bu W, Zhu M, Li S, et al. Novel GPC3 gene mutation in Simpson-Golabi-Behmel syndrome with endocrine anomalies: A case report. Balkan J Med Genet 2022; 24: 95–98. doi: 10.2478/bjmg-2021-0024.
24. Rahiman EA, Bhat V, Kumar N, Mathai SS. Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma. BMJ Case Rep 2025; 18: e262331. doi: 10.1136/bcr-2024-262331.
25. Nisbet AF, Hathaway ER, Kalish JM. Simpson-Golabi-Behmel Syndrome Type 1. 2006 Dec 19 [updated 2024 Nov 14]. In: Adam MP, Bick S, Mirzaa GM, et al. (eds.). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 1993–2025.
26. Watanabe K, Noguchi A, Takahashi I, et al. Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo
27. 240-kb deletion including GPC3. Hum Genome Var 2022; 9: 23. doi: 10.1038/s41439-022-00196-8. 
28. Yehia L, Keel E, Eng C. The clinical spectrum of PTEN mutations. Annu Rev Med 2020; 71: 103–116. doi: 10.1146/annurev-med-052218-125823.
29. Kapačinskaitė M, Stratica N, Adomaitienė I, et al. A systematic review of Bannayan-Riley-Ruvalcaba syndrome. Sci Rep 2024; 14: 25391. doi: 10.1038/s41598-024-77082-6.
30. Iskandarli M, Yaman B, Aslan A. A case of Bannayan–Riley–Ruvalcaba syndrome. A new clinical finding and brief review. Int J Dermatol 2016; 55: 1040–1043. doi: 10.1111/ijd.13013. 
31. Lowichik A, White FV, Timmons CF, et al. Bannayan-Riley-Ruvalcaba syndrome: Spectrum of intestinal pathology including juvenile polyps. Pediatr Dev Pathol 2000; 3: 155–161. doi: 10.1007/s100240050019.
32. Munns CF, Batch JA. Hyperinsulinism and Beckwith-Wiedemann syndrome. Arch Dis Child Fetal Neonatal Ed 2001; 84: F67–69. doi: 10.1136/fn.84.1.f67.
33. Akcan T, Shariff JRR. Recurrent hypoglycemia secondary to insulinoma in an adult with Beckwith-Wiedemann syndrome. JCEM Case Rep 2023; 1:luad062. doi: 10.1210/jcemcr/luad062.
34. Fonville M, Pivnick E, Urraca N, et al. Atypical Sotos syndrome with normal length and late hyperinsulinemic hypoglycemia presentation. Genet Med Open 2023; 1: 100196. doi: 10.1016/j.gimo.2023.100196.
35. Verma A, Salehi P, Hing A, et al. Sotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism. Int J Pediatr Adolesc Med 2021; 8: 191–194. doi: 10.1016/j.ijpam.2020.06.001. 
36. Stoll C, Talon P, Mengus L, et al. A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother. Clin Genet 1985; 28: 56–60. doi: 10.1111/j.1399-0004.1985.tb00396.x. 
37. Vincenzi G, Petralia IT, Abbate M, et al. Multinodular goiter in a patient with congenital hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: The possible synergic role of TPO and PTEN mutation. Front Endocrinol (Lausanne) 2023;14: 1205785. doi: 10.3389/fendo.2023.1205785.
38. Zhang J, Mu K, Xu H, et al. Simpson-Golabi-Behmel syndrome type 1 with subclinical hypothyroidism: A case report. Medicine (Baltimore) 2019; 98: e17616. doi: 10.1097/MD.0000000000017616.
39. Hendricks LAJ, Hoogerbrugge N, Schuurs-Hoeijmakers JHM, Vos JR. A review on age-related cancer risks in PTEN hamartoma tumor syndrome. Clin Genet 2021; 99: 219–225. doi: 10.1111/cge.13875.
40. ORPHA:109. Bannayan-Riley-Ruvalcaba syndrome. Available at: https://www.orpha.net/en/disease/detail/109 [Access: 24.03.2025].
41. Ngeow J, Sesock K, Eng C. Breast cancer risk and clinical implications for germline PTEN mutation carriers. Breast Cancer Res Treat 2017; 165: 1–8. doi: 10.1007/s10549-015-3665-z.
42. # 602535. MARSHALL-SMITH SYNDROME; MRSHSS. Available at: https://omim.org/entry/602535 [Access: 24.03.2025].
43. Adam MP, Hennekam RCM, Keppen LD, et al. Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Am J Med Genet A 2005; 137: 117–124. doi: 10.1002/ajmg.a.30580.
44. Mulder PA, van Balkom IDC, Landlust AM, et al. Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: Phenotype comparison in two related syndromes. J Intellect Disabil Res 2020; 64: 956–969. doi: 10.1111/jir.12787.
45. ORPHA:561. Marshall-Smith syndrome. Available at: https://www.orpha.net/en/disease/detail/561 [Access: 16.03.2025].
46. ORPHA:3447. Weaver syndrome. Available at: https://www.orpha.net/en/disease/detail/3447 [Access: 16.03.2025].
47. MedlinePlus. Weaver syndrome. Available at: https://medlineplus.gov/genetics/condition/weaver-syndrome/ [Access: 24.03.2025].
48. Opitz JM, Weaver DW, Reynolds JF. The syndromes of Sotos and Weaver: Reports and review. J Med Genet 1998; 79: 233–240. doi: 10.1002/(sici)1096-8628(19981002)79:4<294::aid-ajmg12>3.0.co;2-m.
49. # 277590. WEAVER SYNDROME. Available at: https://www.omim.org/entry/277590 [Access: 24.03.2025].
50. Weaver syndrome. Available at: https://www.ncbi.nlm.nih.gov/medgen/120511 [Access: 24.03.2025].
51. ORPHA:221054. Acrocephalopolydactyly. Available at: https://www.orpha.net/en/disease/detail/221054 [Access: 23.07.2025].
52. Thornton CM, Stewart F. Elejalde syndrome: A case report. J Med Genet 1997; 69: 142–144. doi: 10.1002/(sici)1096-8628(19970414)
53. 69:4<406::aid-ajmg13>3.0.co;2-r.
54. # 225400. EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1; EDSKSCL1. Available at: https://omim.org/entry/225400 [Access: 16.07.2025].
55. Voermans NC, Bönnemann CG, Lammens M, et al. Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers–Danlos syndrome. Am J Med Genet A 2009; 149A: 2311–2316. doi: 10.1002/ajmg.a.32997.
56. Yeowell H, Walker L. Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene. Proc Assoc Am Physicians 1997; 109: 383–396.
57. Giunta C, Randolph A, Al-Gazali LI, et al. Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA). Am J Med Genet A 2005; 133A: 158–164. doi: 10.1002/ajmg.a.30529. 
58. Salavoura K, Valari M, Kolialexi A, et al. A case of Ehlers-Danlos syndrome type VI. Genet Couns 2006; 17: 193–198.
59. Wilcox WR. Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects. Am J Hum Genet 2003; 72: 503–504.
60. # 615879. TATTON-BROWN-RAHMAN SYNDROMET; TBRS. Available at: https://omim.org/entry/615879 [Access: 07.01.2026].
61. Tatton-Brown K, Zachariou A, Loveday C, et al. The Tatton-Brown-Rahman syndrome: a clinical study of 55 individuals with de novo constitutive DNMT3A variants. Wellcome Open Res 2018; 3: 1–16. doi: 10.12688/wellcomeopenres.14430.1.
62. Ostrowski PJ, Tatton-Brown K. Tatton-Brown-Rahman syndrome. In: GeneReviews®. University of Washington, Seattle 2022.
63. Le Collen L, Charnay T, Ly S, et al. Tatton-Brown-Rahman syndrome: a new multiple endocrine neoplasia syndrome with intellectual disability? Ann Endocrinol (Paris) 2025; 86: 1–7. doi: 10.1016/j.ando.2024.101680.

Termedia
About us Contact
Copyright notice Privacy policy Advertising policy Contact us
Quick links
Journals Books eBooks Events
© 2026 Termedia Sp. z o.o.
Developed by Bentus.