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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/09/13 07:28:03」(JST)

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Sotos syndrome (cerebral gigantism) is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. The disorder may be accompanied by autism,^[1] mild mental retardation, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocephaly) than is normal for their age. Signs of the disorder, which vary among individuals, include a disportionately large and long head with a slightly protrusive forehead, large hands and feet, hypertelorism (an abnormally increased distance between the eyes), and downslanting eyes. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically, familial cases have also been reported. It is similar to Weaver syndrome.

Epidemiology[edit source | edit]

Incidence is approximately 1 in 14,000 births.^[2]

Signs and symptoms[edit source | edit]

Characterized by overgrowth and advanced bone age. Affected individuals are dysmorphic with macrodolichocephaly, downslanting palpebral fissures and a pointed chin. The facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. Adult height is usually in the normal range, however.

People with Sotos syndrome often have intellectual impairment,^[2] and most also have behavioral problems. Frequent behavioral issues include attention deficit hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums, and impulsive behaviors. Problems with speech and language are also common. Affected individuals often have problems with sound production, stuttering, and a monotone voice. Additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling.

Other signs of Sotos syndrome include an abnormal side-to-side curvature of the spine (scoliosis), seizures, heart or kidney defects, hearing loss, and problems with vision. Some infants with this disorder experience yellowing of the skin and whites of the eyes (jaundice) and poor feeding. A few people with Sotos syndrome have developed cancer, most often in childhood, but no single form of cancer has been associated with this condition. It remains uncertain whether Sotos syndrome increases the risk of specific types of cancer. If people with this disorder have any increased cancer risk, their risk is only slightly greater than that of the general population.

Genetics[edit source | edit]

Mutations in the NSD1 gene cause Sotos syndrome.^[3] The NSD1 gene provides instructions for making a protein that is involved in normal growth and development. The function of this protein is unknown, however. In the Japanese population, the most common genetic change leading to Sotos syndrome deletes genetic material from the region of chromosome 5 containing the NSD1 gene. In other populations, small mutations within the NSD1 gene occur more frequently. Genetic changes involving the NSD1 gene prevent one copy of the gene from producing any functional protein. It is unclear how a reduced amount of this protein during development leads to learning disabilities, overgrowth, and the other features of Sotos syndrome.

About 95 percent of Sotos syndrome cases occur in people with no history of the disorder in their family. Most of these cases result from new mutations involving the NSD1 gene. A few families have been described with more than one affected family member. These cases helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.

Treatment[edit source | edit]

There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic.

Prognosis[edit source | edit]

Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age years; however, coordination problems may persist into adulthood.

References[edit source | edit]

^ http://www.exploringautism.org/autism/evaluation.htm
^ ^a ^b http://au.news.yahoo.com/today-tonight/lifestyle/article/-/16468063/a-gentle-giant/
^ Melchior L, Schwartz M, Duno M (March 2005). "dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations". Ann. Hum. Genet. 69 (Pt 2): 222–6. doi:10.1046/j.1529-8817.2004.00150.x. PMID 15720303.

External links[edit source | edit]

Sotos Syndrome Support Association
Information related to orphan diseases and orphan drugs - site is in French
sotos at NIH/UW GeneTests

UpToDate Contents

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1. 高身長または異常に急激な成長がみられる小児 the child with tall stature or abnormally rapid growth
2. 幼児および小児における巨頭症の病因および評価 etiology and evaluation of macrocephaly in infants and children
3. ベックウィズ・ヴィーデマン症候群 beckwith wiedemann syndrome
4. 小児および思春期における脆弱Ｘ症候群の臨床的特徴および診断 clinical features and diagnosis of fragile x syndrome in children and adolescents
5. ウィルムス腫瘍の症状、診断、および病期分類 presentation diagnosis and staging of wilms tumor

English Journal

Birmingham mid-head resection hip arthroplasty in a young man with gigantism.

Murphy MT, Shillington MP, Mogridge DR, Journeaux SF.SourceMater Medical Research Institute, Mater Health Services, South Brisbane, Australia.
The Journal of arthroplasty.J Arthroplasty.2012 Feb;27(2):324.e13-6. Epub 2011 Jun 24.
The Birmingham Mid-Head Resection (Smith & Nephew Ltd, Warwick, United Kingdom) arthroplasty is a new bone-conserving procedure that, like hip resurfacing, is used in younger, active patients. We present the case of a young man with Sotos syndrome (cerebral gigantism) with associated extraordina
PMID 21704481

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.

Lehman AM, du Souich C, Chai D, Eydoux P, Huang JL, Fok AK, Avila L, Swingland J, Delaney AD, McGillivray B, Goldowitz D, Argiropoulos B, Kobor MS, Boerkoel CF.SourceDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Clinical genetics.Clin Genet.2012 Jan;81(1):56-63. doi: 10.1111/j.1399-0004.2010.01615.x. Epub 2011 Jan 19.
Up to 90% of individuals affected by Sotos syndrome have a pathogenic alteration of NSD1 (encodes nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1), a histone methyltransferase that functions as both a transcriptional activator and a repressor. Genomic copy number v
PMID 21204797

Japanese Journal

NSD1欠失の認められた Sotos 症候群16例の臨床的検討

當山真弓,當山潤,遠藤尚宏,竹谷徳雄,高良幸伸,要匡,成富研二
日本小児科学会雑誌 114(1), 48-52, 2010-01-01
NAID 10026277255

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