Skip to main content
SpringerLink
Log in

Sotos Syndrome

  • Reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling

  • 328 Accesses

Abstract

Sotos syndrome was described by Sotos et al. (1964) in 1964 and is relatively common among overgrowth syndromes. It is also known as cerebral gigantism (Abraham and Snodgrass 1969).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  • Abraham, J. M., & Snodgrass, G. J. (1969). Sotos’ syndrome of cerebral gigantism. Archives of Disease in Childhood, 44, 203–210.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Allanson, J. E., & Cole, T. R. P. (1996). Sotos syndrome: Evolution of facial phenotype subjective and objective assessment. American Journal of Medical Genetics, 65, 13–20.

    Article  CAS  PubMed  Google Scholar 

  • Almuriekhi, M., Shintani, T., Fahiminiya, S., et al. (2015). Loss-of-function mutation in APC2 causes Sotos syndrome features. Cell Reports, 10, 1585–1598.

    Article  CAS  Google Scholar 

  • Bale, A. E., Drum, M. A., Parry, D. M., et al. (1985). Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics. American Journal of Medical Genetics, 20, 613–624.

    Article  CAS  PubMed  Google Scholar 

  • Boman, H., & Nilsson, D. (1980). Sotos syndrome in two brothers. Clinical Genetics, 18, 421–427.

    Article  CAS  PubMed  Google Scholar 

  • Butler, M. G., Dijkstra, P. F., Meaney, F. J., et al. (1988). Metacarpophalangeal pattern profile analysis in Sotos syndrome: A follow-up report on 34 subjects. American Journal of Medical Genetics, 29, 143–147.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Chen, C.-P. (2012). Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson–Golabi–Behmel syndrome, Sotos syndrome, and Beckwith–Wiedemann syndrome. Taiwanese Journal of Obstetrics & Gynecology, 51, 186–191.

    Article  CAS  Google Scholar 

  • Chen, C. P., Lin, S. P., Chang, T. Y., et al. (2002). Perinatal imaging findings of inherited Sotos syndrome. Prenatal Diagnosis, 22, 887–892.

    Article  PubMed  Google Scholar 

  • Cohen, M. M., Jr. (1999). Tumors and nontumors in Sotos syndrome. American Journal of Medical Genetics, 84, 173–175.

    Article  PubMed  Google Scholar 

  • Cole, T. R., & Hughes, H. E. (1994). Sotos syndrome. Journal of Medical Genetics, 27, 571–576.

    Article  Google Scholar 

  • Donnelly, D. E., Turnpenny, P., & McConnell, V. P. M. (2011). Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome. Clinical Dysmorphology, 20, 175–181.

    Article  PubMed  Google Scholar 

  • Douglas, J., Hanks, S., Temple, I. K., et al. (2003). NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. American Journal of Human Genetics, 72, 132–143.

    Article  CAS  PubMed  Google Scholar 

  • Faivre, L., Viot, G., Prieur, M., et al. (2000). Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism. American Journal of Medical Genetics, 91, 273–276.

    Article  CAS  PubMed  Google Scholar 

  • Gurrieri, F., Cavaliere, M. L., Wischmeijer, A., et al. (2015). NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series. European Journal of Medical Genetics, 58, 488–491.

    Article  PubMed  Google Scholar 

  • Gusmão Melo, D., Pina-Neto, J. M., Acosta, A. X., et al. (2000). Neuroimaging and echocardiographic findings in Sotos syndrome. American Journal of Medical Genetics, 90, 432–434.

    Article  PubMed  Google Scholar 

  • Hansen, F. J., & Friis, B. (1976). Familial occurrence of cerebral gigantism. Sotos’ syndrome. Acta Paediatrica Scandinavica, 65, 387–389.

    Article  CAS  PubMed  Google Scholar 

  • HÅ‘glund, P., Kurotaki, N., Kytola, S., et al. (2003). Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. Journal of Medical Genetics, 40, 51–54.

    Article  PubMed  PubMed Central  Google Scholar 

  • Hood, R. L., McGillivray, G., Hunter, M. F., et al. (2016). Severe connective tissue laxity including aortic dilatation in Sotos syndrome. American Journal of Medical Genetics. Part A, 170A, 531–535.

    Article  PubMed  Google Scholar 

  • Imaizumi, K., Kimura, J., Matsuo, M., et al. (2002). Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). American Journal of Medical Genetics, 107, 58–60.

    Article  PubMed  Google Scholar 

  • Jezela-Stanek, A., Kucharczyk, M., Falana, K., et al. (2016). Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant. Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 160, 161–167.

    PubMed  Google Scholar 

  • Kamimura, J., Endo, Y., Kurotaki, N., et al. (2003). Identification of eight novel NSD1 mutations in Sotos syndrome. Journal of Medical Genetics, 40, e126.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Klaassens, M., Morrogh, D., Rosser, E. M., et al. (2014). Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. European Journal of Human Genetics, 162, 1–6.

    Google Scholar 

  • Kurotaki, N., Imaizumi, K., Harada, N., et al. (2002). Haploinsufficiency of NSD1 causes Sotos syndrome. Nature Genetics, 30, 365–366.

    Article  CAS  PubMed  Google Scholar 

  • Kurotaki, N., Harada, N., Shimokawa, O., et al. (2003). Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion. Human Mutation, 22, 378–387.

    Article  CAS  PubMed  Google Scholar 

  • Lehman, A. M., du Souich, C., Chai, D., et al. (2012). 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression. Clinical Genetics, 81, 56–63.

    Article  CAS  PubMed  Google Scholar 

  • Malan, V., Rajan, D., Thomas, S., et al. (2010). Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall–Smith syndrome. American Journal of Human Genetics, 87, 189–198.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Maroun, C., Schmerler, S., & Hutcheon, R. G. (1994). Child with Sotos phenotype and a 5:15 translocation. American Journal of Medical Genetics, 50, 291–293.

    Article  CAS  PubMed  Google Scholar 

  • Martinez, F., Marín-Reina, P., Sanchis-Calvo, A., et al. (2015). Novel mutations of NFIX gene causing Marshall–Smith syndrome or Sotos-like syndrome: One gene, two phenotypes. Pediatric Research, 78, 533–539.

    Article  CAS  PubMed  Google Scholar 

  • Miyake, N., Kurotaki, N., Sugawara, H., et al. (2003). Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. American Journal of Human Genetics, 72, 1331–1337.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Mouridsen, S. E., & Hansen, M. B. (2002). Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations. European Child and Adolescent Psychiatry, 11, 43–48.

    Article  CAS  PubMed  Google Scholar 

  • Noreau, D. R., Al-Ata, J., Jutras, L., et al. (1998). Congenital heart defects in Sotos syndrome. American Journal of Medical Genetics, 79, 327–328.

    Article  CAS  PubMed  Google Scholar 

  • Novara, F., Stanzial, F., Rossi, E., et al. (2014). Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. American Journal of Medical Genetics. Part A, 164A, 2084–2090.

    Article  PubMed  Google Scholar 

  • Opitz, J. M., Weaver, D. W., & Reynolds, J. F. (1998). The syndrome of Sotos and Weaver: Reports and review. American Journal of Medical Genetics, 29, 294–304.

    Article  Google Scholar 

  • Priolo, M., Grosso, E., Mammì, C., et al. (2012). A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: A new case. Gene, 511, 103–105.

    Article  CAS  PubMed  Google Scholar 

  • Rio, M., Clech, L., Amiel, J., et al. (2003). Spectrum of NSD1 mutations in Sotos and Weaver syndromes. Journal of Medical Genetics, 40, 436–440.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Sarimski, K. (2003). Behavioural and emotional characteristics in children with Sotos syndrome and learning disabilities. Developmental Medicine and Child Neurology, 45, 172–178.

    Article  PubMed  Google Scholar 

  • Scarpa, P., Faggioli, R., & Voghenzi, A. (1994). Familial Sotos syndrome: Longitudinal study of two additional cases. Genetic Counseling, 5, 155–159.

    CAS  PubMed  Google Scholar 

  • Schaefer, G. B., Bodensteiner, J. B., Buehler, B. A., et al. (1997). The neuroimaging findings in Sotos syndrome. American Journal of Medical Genetics, 68, 462–465.

    Article  CAS  PubMed  Google Scholar 

  • Sotos, J. F., Dodge, P. R., Muirhead, D., et al. (1964). Cerebral gigantism in childhood. A syndrome of excessively rapid growth with acromegalic features and non-progressive neurologic disorder. New England Journal of Medicine, 271, 109–116.

    Article  CAS  PubMed  Google Scholar 

  • Tatton-Brown, K., & Rahman, N. (2007). Sotos syndrome. European Journal of Human Genetics, 15, 264–271.

    Article  CAS  PubMed  Google Scholar 

  • Tatton-Brown, K., Cole, T. R. P., & Rahman, N. (2015). Sotos syndrome. GeneReviews. Updated 19 Nov 2015. Available at http://www.ncbi.nlm.nih.gov/books/NBK1479/

  • Türkmen, S., Gillessen-Kaesbach, G., Meinecke, P., et al. (2003). Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. European Journal of Human Genetics, 11, 858–865.

    Article  PubMed  Google Scholar 

  • Visser, R., & Matsumoto, N. (2003). Genetics of Sotos syndrome. Current Opinion in Pediatrics, 15, 598–606.

    Article  PubMed  Google Scholar 

  • Winship, I. M. (1985). Sotos syndrome-autosomal dominant inheritance substantiated. Clinical Genetics, 28, 243–246.

    Article  CAS  PubMed  Google Scholar 

  • Yoneda, Y., Saitsu, H., Touyama, M., et al. (2012). Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. Journal of Human Genetics, 57, 207–211.

    Article  CAS  PubMed  Google Scholar 

  • Žilina, O., Reimand, T., Tammur, P., et al. (2013). Patient with Dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature. European Journal of Medical Genetics, 56, 202–206.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

Authors
  1. Harold Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer Science+Business Media LLC

About this entry

Cite this entry

Chen, H. (2017). Sotos Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_220

Download citation

  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_220

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation