Disease definition. Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with. A number sign (#) is used with this entry because Sotos syndrome-1 (SOTOS1) is caused by heterozygous mutation in the NSD1 gene () or by a deletion. El síndrome de Sotos (SS) es una enfermedad genética con un patrón de herencia autosómico dominante, causado por haploinsuficiencia del gen NSD1.

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Robertson and Bankier thought the associated features suggested a coexisting connective tissue disorder. This syndrome is characterized by overgrowth and advanced bone age.

C ] Weight – Mean full term birth weight 3. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Other signs include scoliosisseizures, heart or kidney defects, hearing loss, and problems with vision. Minor changes in 2 mothers of 2 unrelated affected infants reported by Goldstein et al. Congenital heart defects may be sotow.

The differential diagnosis is with Weaver syndrome, patients with mental retardation and overgrowth, patients with autosomal dominant macrocephaly, fragile X syndrome, Marfan syndrome, Bannayan-Riley-Ruvalcaba syndrome and XYY syndrome 4.

Apparent Sotos syndrome cerebral soros in a child with Trisomy 20p Cognitive and psychological profiles in dysmorphic syndromes.

Sotos syndrome

Manifestations in this family included dramatically increased height, weight, and head circumference, long face, large mandible, and large ears. A number sign is used with this entry because Sotos syndrome-1 SOTOS1 is sindrlme by heterozygous mutation in the NSD1 gene or by a deletion in the 5q35 region including genomic sequence in addition to the NSD1 gene. The possibility of uniparental disomy in Sotos syndrome was investigated by Smith et al.


Involvement of genes at 3p21 was also suggested by the case reported by Cole et al. For example, it has been demonstrated that outside persistence of cavum septum and cavum velum interpositum are markers of disturb sindromee brain development and associated with increased risk of mental retardation 21, The Prader-Willi syndrome and the Sotos syndrome: Sotos syndrome cerebral gigantism or Sotos-Dodge syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life.

Risk of malignancy in Sotos syndrome. All informative cases sindrme biparental inheritance and no cases of UPD were found.

Some infants with this disorder experience jaundice and poor feeding. Evidence for autosomal recessive inheritance in cerebral gigantism. OMIM is intended for use primarily by physicians and skndrome professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Familial occurrence of cerebral gigantism, Sotos’ syndrome. Cerebral ventricular size in children: In a review, Cole and Hughes emphasized that the handicaps in Sotos syndrome are fewer than previously believed and tend to improve with age.

Sotos syndrome (cerebral gigantism): analysis of 8 cases

In childhood, occipitofrontal head circumference OFCheight, and weight were all increased. Although most cases of Sotos syndrome occur sporadically, familial cases have also been reported.

In a female infant with features of both Sotos syndrome and Nevo syndrome seeKanemoto et al. Allanson and Cole presented anthropometric evaluation of the head in 45 patients with Sotos syndrome between age 1 and 25 years. Syndromes Rare diseases Genetic diseases and disorders Syndromes affecting the nervous system.

C ] – Mean male adult height Cerebral gigantism in childhood: Length was identified as the most significantly increased prenatal parameter. This ‘normalization’ was more pronounced in females and was probably related to their early puberty. About 95 percent of Sotos syndrome cases occur by spontaneous mutation. Hypodontia involved only the second premolars, and there were no differences in the number of missing teeth between patients with the microdeletion or a mutation.


This section is empty. The best correlation between the molecular and clinical findings was for facial gestalt in conjunction with overgrowth, macrocephaly, and developmental delay.

Affected individuals are dysmorphic, with macrodolichocephaly, downslanting palpebral fissures and a pointed chin.

All of the patients with hypodontia had a heterozygous mutation in the NSD1 gene. Chromosomal analysis revealed normal in the 8 patients.

Recessive inheritance has also been suggested 17 and this syndrome has been described in monosygotic twins 2first cousins 18 and siblings Halal reported that the older of the boys she reported with cerebral gigantism had pigmented spots on the genitalia and sindfome the father had been found to have a rectal polyp–findings like those in the 2 unrelated adult males reported by Ruvalcaba et al.

Conclusion Finally, this article also proposes the performing of comparative genomic hybridisation as the first sindroe option in cases where clinical findings are suggestive of SS.

Table 2 shows the neuroimaging findings in patients, which were grouped into three categories: The skull is large with moderate prognathism.

The prevalence is not known, but is estimated to be between 1 in 10, and 1 in 50, 4. Clinical Synopsis Toggle Dropdown.

Sotos syndrome | Radiology Reference Article |

Bardet—Biedl syndrome Laurence—Moon syndrome. In Weaver syndrome, there are more conspicuous contractures and a facial appearance that experts find convincingly different from that in Sotos syndrome. You can help by adding to it.


Overgrowth associated syndrome. Sindrome di Sotos. Epilessia e sindrome di Sotos La sindrome è causata da mutazioni e delezioni del gene NSD1. 11 May SÍNDROME DE SOTOS P Lapunzina Instituto de Genética Médica y Molecular. Hospital Universitario La Paz, Madrid. Lapunzina P, Síndrome. Disease definition. Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with.

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Molecular testing for both conditions sotso indicated in individuals with clinical overlap. The spectrum is broad and ranges from a mild learning disability affected individuals would sindrome de sotos expected to live independently and have their own families to a severe learning disability affected individuals would be unlikely to live independently as adults.

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Individuals with Sotos syndrome often have intellectual impairment, [3] and most also have behavioral problems. For all other comments, sindrome de sotos send your remarks via contact us. Some patients do not have global mental retardation but do have deficits in language and mathematics and visual motor coordination problems.

Sindrome de sotos Nov 7. Various other clinical features have been associated with Sotos syndrome.

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More than pathogenic variants have been published. Sotos syndrome is a rare sindrome de sotos genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability. For clarity, excerpts of GeneReviews chapters for use in lab reports and sindrome de sotos notes are a permitted use.


This syndrome is d by overgrowth and advanced bone age. Thorough history to identify known clinical sequelae of Sotos syndrome. A small number of patients with Sotos syndrome have sindrome de sotos cancer, most often in childhood, but no single form of cancer has been wotos with this condition. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Recessive inheritance has also been suggested 17 and this syndrome has been described in monosygotic twins 2first cousins 18 and siblings Sindrome de sotos data suggest that the increased height in Sotos syndrome is predominantly the result of an increase in limb length [ Agwu et alde Boer et al ].

This page was last edited on 18 Julyat About 95 percent of Sotos syndrome cases occur in people with no history of the disorder in their family. Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in sotos syndrome.

Of note, expressivity is highly variable. Although most centers would consider decisions about prenatal testing to be the choice of the parents, sindrome de sotos of these issues is appropriate. It is likely a heterogeneous condition and is usually a diagnosis of exclusion. Health care sindrome de sotos for this disease Expert centres Diagnostic tests Patient organisations 36 Orphan drug s 0.

Average birth weight is within the normal range 50 th st centile. Evidence for autosomal recessive inheritance in cerebral gigantism. NSD1gene mutation or deletion on chromosome 5 is sindrome de sotos as sindrome de sotos diagnostic criteria along with physical features of the child correlating to the syndrome. The diagnosis of Sotos syndrome is established in a proband by identification of a heterozygous NSD1 pathogenic variant on molecular genetic testing.


No further modifications are allowed. Curr Opin Genet Dev.

The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family sindrome de sotos. There may not be clinical trials for this disorder. Theses photographs, together with photographs of first-degree relatives, also at age 1 to 6 years, were reviewed by four clinical geneticists and in 41 probands, but siindrome first-degree relatives the sindrome de sotos gestalt was thought to be characteristic of Sotos syndrome.

Methods that may be used include: Sotos syndrome, cerebral gigantism, macrocephaly, mental retardation. Arch Neurol wotos Other signs and symptoms of Sindrome de sotos syndrome can include an abnormal side-to-side curvature of the spine scoliosisseizures, heart or kidney defects, hearing loss, and problems with vision.

This facial appearance is most notable in early childhood. The NSD1 gene provides instructions aindrome making a protein that functions as a histone methyltransferase.


Cancer screening is not recommended. Here, we report 8 patients with Sotos syndrome and relate their clinical features, neuroimaging and echocardiografic findings. Congenital heart defects in Sotos sequence.

In another study from Canada 3 patients out of 14 had heart defects 2.