Sotos syndrome

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Macrocephaly

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.


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PMID (PMCID)
26043501
 MIXED_SAMPLE Child
Neuroimaging and clinical characterization of Sotos syndrome.
Turkmen S, ahin S, Kocer N, Peters H, Mundlos S, Tuysuz B.
Genet Couns. 2015;26(1):1-12.
Sotos syndrome is a well-known overgrowth syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial appearance and learning disability.
25510705
 FEMALE Adult
Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome.
Chen CP, Lin CJ, Chern SR, Liu YP, Kuo YL, Chen YN, Wu PS, Town DD, Chen LF, Yang CW, Wang W.
Taiwan J Obstet Gynecol. 2014;53(4):583-7.
Fetuses with Sotos syndrome may present macrocephaly, polyhydramnios, ventriculomegaly, and pyelectasis in the third trimester.
24192683
 MALE Child
A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings.
Klc E, Utine GE, Boduroglu K.
Turk J Pediatr. 2013;55(2):207-9.
Sotos syndrome is a multiple anomaly syndrome characterized by pre- and postnatal overgrowth with advanced bone age, macrocephaly, developmental delay, and distinctive facial phenotype.
23341071
 MALE
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.
Castronovo C, Rusconi D, Crippa M, Giardino D, Gervasini C, Milani D, Cereda A, Larizza L, Selicorni A, Finelli P.
Am J Med Genet A. 2013;161A(3):611-8.
Sotos syndrome, which is characterized by overgrowth, macrocephaly, distinctive facial features, and developmental delay, arises from mutations and deletions of the NSD1 gene at 5q35.3.
23369838
 FEMALE Child
Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.
ilina O, Reimand T, Tammur P, Tillmann V, Kurg A, Ounap K.
Eur J Med Genet. 2013;56(4):202-6.
Deletions in this locus lead to Sotos syndrome characterized by childhood overgrowth with advanced bone age, craniofacial dysmorphic features including macrocephaly, and learning difficulties; while duplications have been proposed to manifest in opposite phenotype related to growth.
23913520
 MIXED_SAMPLE Child
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U.
Am J Med Genet A. 2013;161A(9):2158-66.
Loss-of-function mutations of NSD1 and 5q35 microdeletions encompassing NSD1 are a major cause of Sotos syndrome (Sos), which is characterized by overgrowth, macrocephaly, characteristic facies, and variable intellectual disability (ID).
21084978
 FEMALE Infant, Newborn
Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome.
Su PH, Yu JS, Chen SJ, Chen JY, Tsao TF.
Clin Dysmorphol. 2011;20(1):42-6.
Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, developmental delay, and macrocephaly.
19844260
 MALE Child
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW.
Eur J Hum Genet. 2010;18(2):258-61.
Sotos syndrome is characterized by overgrowth, macrocephaly, developmental delay and advanced osseous maturation.
18381056
 FEMALE Adult
[Neuropsychiatric symptoms in Sotos syndrome. Case report and review of the literature].
Kessler H, Kraft S.
Neuropsychiatr. 2008;22(1):38-42.
Sotos syndrome, or cerebral gigantism, is a rare genetic syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial gestalt and learning difficulties.
18381056
 FEMALE Adult
[Neuropsychiatric symptoms in Sotos syndrome. Case report and review of the literature].
Kessler H, Kraft S.
Neuropsychiatr. 2008;22(1):38-42.
Sotos syndrome, or cerebral gigantism, is a rare genetic syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial gestalt and learning difficulties.
16770806
 FEMALE Child
Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.
Chen CP, Lin SP, Lin CC, Chen YJ, Chern SR, Li YC, Hsieh LJ, Lee CC, Pan CW, Wang W.
Am J Med Genet A. 2006;140(14):1594-600.
Mutations or deletions of the NSD1 gene, mapped to 5q35.2 --> q35.3, has been known to cause Sotos syndrome with cerebral gigantism, macrocephaly, advanced bone age and overgrowth.
16770806
 FEMALE Child
Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.
Chen CP, Lin SP, Lin CC, Chen YJ, Chern SR, Li YC, Hsieh LJ, Lee CC, Pan CW, Wang W.
Am J Med Genet A. 2006;140(14):1594-600.
Mutations or deletions of the NSD1 gene, mapped to 5q35.2 --> q35.3, has been known to cause Sotos syndrome with cerebral gigantism, macrocephaly, advanced bone age and overgrowth.
12068351
 MIXED_SAMPLE Child
Sotos syndrome (cerebral gigantism): analysis of 8 cases.
Melo DG, Acosta AX, Salles MA, Pina-Neto JM, Castro JD, Santos AC.
Arq Neuropsiquiatr. 2002;60(2-A):234-8.
Sotos syndrome or cerebral gigantism is characterized by macrocephaly, overgrowth, mental retardation and central nervous system abnormalities.
12068351
 MIXED_SAMPLE Child
Sotos syndrome (cerebral gigantism): analysis of 8 cases.
Melo DG, Acosta AX, Salles MA, Pina-Neto JM, Castro JD, Santos AC.
Arq Neuropsiquiatr. 2002;60(2-A):234-8.
Sotos syndrome or cerebral gigantism is characterized by macrocephaly, overgrowth, mental retardation and central nervous system abnormalities.
10982971
 MALE Infant
Cole-Hughes macrocephaly syndrome and associated autistic manifestations.
Naqvi S, Cole T, Graham JM Jr.
Am J Med Genet. 2000;94(2):149-52.
Based on cases that had been excluded from a previous clinical study of Sotos syndrome, Cole and Hughes [1991: Am J Med Genet 41:115-124] reported a new syndrome associated with marked obesity, occasional delayed bone age, distinctive facial anomalies, mental retardation, and progressive postnatal macrocephaly in the context of autosomal dominant familial macrocephaly.
2064891
 MALE
Posterior spinal fusion in Sotos' syndrome.
Suresh D.
Br J Anaesth. 1991;66(6):728-32.
Sotos' syndrome (synonym: cerebral gigantism) is the association of mental retardation, macrocephaly and prenatal onset of accelerated growth.
2064891
 MALE
Posterior spinal fusion in Sotos' syndrome.
Suresh D.
Br J Anaesth. 1991;66(6):728-32.
Sotos' syndrome (synonym: cerebral gigantism) is the association of mental retardation, macrocephaly and prenatal onset of accelerated growth.
4064361
 MIXED_SAMPLE Child
Sotos syndrome--autosomal dominant inheritance substantiated.
Winship IM.
Clin Genet. 1985;28(3):243-6.
Sotos syndrome, or Cerebral Gigantism is recognised as the syndromic association of mental retardation, macrocephaly and prenatal onset of accelerated growth.