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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It occurs in all ethnic groups and has been detected throughout the world. Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. From Wikipedia, the free encyclopedia. Allanson and Cole presented anthropometric evaluation of the head in 45 patients with Sotos syndrome between age 1 and 25 years.

Síndrome de Sotos diagnosticado por hibridación genómica comparativa – ScienceDirect

For example, it has been demonstrated that outside persistence of cavum septum and cavum velum interpositum are markers of disturb midline brain development and associated with increased risk of mental retardation 21, In childhood, occipitofrontal head circumference OFCheight, and weight were all increased.

About 95 percent of Sotos syndrome cases occur by spontaneous mutation. Retrieved from ” https: In another study from Canada 3 patients out of 14 had heart defects 2.

The documents contained in this web site are presented for information purposes only. This syndrome is characterized by overgrowth and advanced bone age.

They suggested that mapping and isolation of the causative gene or genes would settle the issue. Phenotypic Series Toggle Dropdown. He had had learning difficulties in school and was a manual laborer. Haploinsufficiency of NSD1 causes Sotos syndrome. 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 in the 5q35 region including genomic sequence in addition to the NSD1 gene.


Only those patients with unambiguous classic Sotos syndrome 6 were included in this study. Bardet—Biedl syndrome Laurence—Moon syndrome. The Figure 1 shows a patient with appearance considered typical of Sotos syndrome, and the Figure 2 shows linear growth in all patients reported in this study.

The cavum septum pellucidum: How to cite this article.

Sotos syndrome – Wikipedia

The neuroimaging abnormalities of Sotos sjndrome provide support for the hypothesis of delayed or disturbed development of the brain and particularly of midline structures Most of the microdeletions were confirmed to be identical by FISH analysis.

Expert curators review the literature and organize it to facilitate your work. Bone age is advanced. The syndromes of Sotos and Weaver.

Sotos syndrome

Only comments written in English can be processed. Although Sotos syndrome in its classically described form was not present, Robertson and Bankier concluded that this entity might reflect sindroe related, perhaps allelic, condition.

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The daughter showed a prominent forehead with sparseness of frontal hair and a ‘ruddy’ or flushed complexion, especially of the nose and perioral area. Three of the 7 patients who had been diagnosed with Weaver syndrome had NSD1 mutations see Constitutional chromosome anomalies in patients with cerebral gigantism Sotos syndrome. Problems with speech and language are also common. A variety of midline abnormalities were noted but anomalies of the corpus callosum were almost universal.

In Sotos syndrome there is remarkably advanced dental maturation; this is rarely commented on in Weaver syndrome.


Child with Sotos phenotype and a 5: Growth is rapid in the first years of life but final height may not be excessive. Incidence is approximately 1 in 14, births. Congenital heart defects in Sotos sequence.

Some infants with this disorder experience jaundice and poor feeding.

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in soyos overgrowth phenotypes. Neuroblastoma in a patient with Sotos’ syndrome.

They suggested that instances of seemingly autosomal recessive inheritance may be examples of incomplete penetrance, gonadal mosaicism, or genetic heterogeneity.

Other signs include scoliosisseizures, heart or kidney defects, hearing loss, and problems with vision. SndromeC HPO: Cerebral ventricular size in children: Tumor Formation Maldonado et al. Owing to the clinical sindtome between the 2 syndromes, Baujat et al. Differential Diagnosis Schaefer et al. If persons with this disorder have any increased cancer risk, their risk is only slightly greater than that of the general population.

Sotos syndrome – PS – 3 Entries. Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: The young age of occurrence of this gastric carcinoma suggested a genetic factor.

Features that were more frequent and more pronounced in patients with the sidrome included mandibular recession, scissors or posterior crossbite, and small dental arch with labioclination of the maxillary central incisors.

Apparent Sotos syndrome cerebral gigantism in a child with Trisomy sindromd Clin Pediatr ; The results suggested that the 2 disorders may have more similarities than previously thought and that NSD1 could be involved in imprinting of the 11p15 region.