Simpson-Golabi-Behmel syndrome

Last revised by Edgar Lorente on 29 Nov 2020

Citation, DOI, disclosures and article data

Citation:

Iqbal S, Lorente E, Sharma R, Simpson-Golabi-Behmel syndrome. Reference article, Radiopaedia.org (Accessed on 20 Apr 2024) https://doi.org/10.53347/rID-84414

DOI:

https://doi.org/10.53347/rID-84414

Permalink:

https://radiopaedia.org/articles/84414

rID:

84414

Article created:

24 Nov 2020, Subhan Iqbal

Disclosures:

At the time the article was created Subhan Iqbal had no recorded disclosures.

View Subhan Iqbal's current disclosures

Last revised:

29 Nov 2020, Edgar Lorente ◉

Disclosures:

At the time the article was last revised Edgar Lorente had no recorded disclosures.

View Edgar Lorente's current disclosures

Revisions:

8 times, by 3 contributors - see full revision history and disclosures

Systems:

Paediatrics

Sections:

Syndromes

Simpson-Golabi-Behmel syndrome is a rare X-linked recessive disorder of pre- and postnatal overgrowth syndrome represented by mild to severe intellectual disability ^3,7, anomalies of the musculoskeletal system, cardiovascular system, central nervous system, renal and gastrointestinal tract were observed ¹¹.

polyhydramnios
neonatal recurrent hypoglycemia ⁶
facial deformities, including cleft lip and palate ⁹, macrostomia, macroglossia and dental malocclusion ¹²
hepatosplenomegaly
multicystic dysplasia of kidneys
malrotation of bowel loops
Meckel diverticulum
congenital heart defects
supernumerary nipples
umbilical and diaphragmatic hernias^1,3,5.
skeletal manifestations, such as congenital C2–C3 vertebral fusion and cervical ribs ⁴.

Like other overgrowth disorders, there is an increased risk of Wilms tumor ¹⁸, adrenal neuroblastoma ¹⁷, gonadoblastomas, hepatoblastomas ¹⁹and acute lymphoblastic leukemia ^2,3,8.

Pathology

Simpson-Golabi-Behmel syndrome is caused by loss of function mutation in the (glypican-3) CPC3 gene ⁸, and in some cases CPC4, that eventually leads to overgrowth disorder and multiple malignancies ^2,5,7.

Differential diagnosis

Differential diagnosis includes ^1,5,7:

References

1. Kubota T. [Simpson-Golabi-Behmel syndrome]. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):638-9. Japanese. PMID: 11528938. Pubmed
2. Minatogawa M, Minatogawa IF, Minatogawa YT, Minatogawa NJ, Minatogawa SS, Minatogawa GH, Minatogawa KK, Minatogawa. Acute lymphoblastic leukemia in a male with Simpson-Golabi-Behmel syndrome. (2018) American journal of medical genetics. Part A. doi:10.1002/ajmg.a.38664 - Pubmed
3. Edmondson A, Edmondson KJ, Edmondson. Overgrowth Syndromes. (2015) Journal of pediatric genetics. doi:10.1055/s-0035-1564440 - Pubmed
4. Magini P, Magini PF, Magini BS, Magini LG, Magini MP, Magini RT, Magini BM, Magini PT, Magini SM, Magini LF, Magini. Prenatal diagnosis of Simpson-Golabi-Behmel syndrome. (2016) American journal of medical genetics. Part A. doi:10.1002/ajmg.a.37873 - Pubmed
5. Zhang J, Zhang MK, Zhang XH, Zhang GY, Zhang LZ, Zhang WL, Zhang LJ, Zhang F, Zhang KY, Zhang YX, Zhang. Simpson-Golabi-Behmel syndrome type 1 with subclinical hypothyroidism: A case report. (2019) Medicine. doi:10.1097/MD.0000000000017616 - Pubmed
6. Ridnõi K, Kurvinen E, Pajusalu S, Reimand T, Õunap K. Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases. (2018) Molecular syndromology. 9 (4): 205-213. doi:10.1159/000490083 - Pubmed
7. Vuillaume M, Vuillaume MM, Vuillaume RS, Vuillaume CE, Vuillaume VS, Vuillaume AJ, Vuillaume BT, Vuillaume CE, Vuillaume GrM, Vuillaume GF, Vuillaume LL, Vuillaume LM, Vuillaume KU, Vuillaume NS, Vuillaume NI, Vuillaume RM, Vuillaume BF, Vuillaume TA, Vuillaume. Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. (2018) Human mutation. doi:10.1002/humu.23428 - Pubmed
8. Morita Y, Morita KN, Morita OH, Morita OT, Morita N, Morita. Simpson-Golabi-Behmel syndrome associated with cleft palate. (2011) The Journal of craniofacial surgery. doi:10.1097/SCS.0b013e31822ea73c - Pubmed
9. Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P. Simpson-Golabi-Behmel syndrome types I and II. (2014) Orphanet journal of rare diseases. 9: 138. doi:10.1186/s13023-014-0138-0 - Pubmed
10. Halayem S, Halayem HM, Halayem MF, Halayem BTH, Halayem TM, Halayem TN, Halayem MR, Halayem BA, Halayem. Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome. (2016) American journal of medical genetics. Part A. doi:10.1002/ajmg.a.37518 - Pubmed
11. Neri G, Neri GF, Neri ZG, Neri LA, Neri. Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. (1998) American journal of medical genetics. doi:10.1002/(sici)1096-8628(19981002)79:4<279::aid-ajmg9>3.0.co;2-h - Pubmed
12. Thomas M, Thomas EV, Thomas SR, Thomas SS, Thomas WT, Thomas TM, Thomas RE, Thomas. Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome. (2012) American journal of medical genetics. Part A. doi:10.1002/ajmg.a.35284 - Pubmed
13. P. S. Buonuomo, A. Ruggiero, I. Vasta, G. Attinà, R. Riccardi, G. Zampino. SECOND CASE OF HEPATOBLASTOMA IN A YOUNG PATIENT WITH SIMPSON-GOLABI-BEHMEL SYNDROME. (2009) Pediatric Hematology and Oncology. doi:10.1080/08880010500198988
14. Rodríguez-Criado G, Magano L, Segovia M, Gurrieri F, Neri G, González-Meneses A, Gómez de Terreros I, Valdéz R, Gracia R, Lapunzina P. Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. Am J Med Genet A. 2005 Oct 15;138A(3):272-7. doi: 10.1002/ajmg.a.30920. PMID: 16158429.
15. DeBaun M, DeBaun EJ, DeBaun SS, DeBaun. Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition. (2001) Molecular genetics and metabolism. doi:10.1006/mgme.2001.3150 - Pubmed