Sotos syndrome


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Sotos syndrome

 [so´tōs]
cerebral gigantism.

So·tos syn·drome

(sō'tōs), [MIM*117550]
cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination; of unknown etiology. Most cases have been sporadic, perhaps new dominant mutations with low fitness, but there is one set of concordant identical twins on record.

So·tos syn·drome

(sō'tōs), [MIM*117550]
cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination; of unknown etiology. Most cases have been sporadic, perhaps new dominant mutations with low fitness, but there is one set of concordant identical twins on record.

Sotos syndrome

(sō′tōs′)
n.
A genetic disorder characterized by large size at birth and an accelerated growth rate in infancy and early childhood without a similar increase in serum growth hormone levels; it is marked by acromegalic features, developmental delay, and moderate intellectual disability.

NSD1

A gene on chromosome 5q35 that encodes a protein that  enhances androgen receptor transactivation, especially in the presence of other androgen receptor-associated coregulators. NSD1 acts as a nucleus-localised, basic transcriptional factor and as a bifunctional transcriptional regulator.

Molecular pathology
NSD1 mutations cause Sotos syndrome and Weaver syndrome, as well as a form of childhood acute myeloid leukaemia with a cryptic translocation, with breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, trithorax domain protein 1 on chromosome 5 and nucleoporin 98-kD on chromosome 11.

Sotos syndrome

Cerebral gigantism An AD condition with rapid early somatic growth of neonatal onset, that is not accompanied by endocrinopathy, accelerated bone maturation, or precocious puberty Clinical Macrosomia, where growth is accelerated for the first 4-5 yrs of life, followed by a normal growth pattern, enlarged acral parts–hands and feet, thickened subcutaneous tissues, macrocephaly, mild mental retardation and perceptual defects; EEG abnormalities, dilated ventricles, dolichocephaly, antimongolic slanting of palpebral fissures, macrognathy, hypertelorism, convulsions, poor coordination, ↑ risk for CA–eg, Wilms' tumor, liver, parotid, ovarian CAs

So·tos syn·drome

(sō'tōs sin'drōm)
Cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination; of unknown etiology.

Sotos,

Juan F., U.S. pediatrician, 1927–.
Sotos syndrome - cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination.

So·tos syn·drome

(sō'tōs sin'drōm) [MIM*117550]
Cerebral gigantism and generalized large muscles in childhood.
References in periodicals archive ?
8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
Other genetic overgrowth conditions that need to be considered in the differential diagnosis of SGBS include Sotos syndrome and Weaver and Perlman syndromes.
Getting the right seat is more important for Kyle than most youngsters, as he was born with Sotos syndrome, meaning he experiences abnormal growth spurts.
Aaron, from Bryncrug near Tywyn, suffered epilepsy and Sotos Syndrome.
In children presenting with obesity, differential diagnosis must include Sotos syndrome.
However, it may be associated with hyperthyroidism (too much thyroid hormone), precocious puberty (the onset of puberty before 8 in a girl or 9 in a boy), Sotos syndrome, and other disorders.
But last year, experts at Yorkhill children's hospital in Glasgow discovered Leo had Sotos syndrome, a rare incurable condition which causes children to grow at an excessive rate in the first few years of childhood.
He had suffered from epilepsy and Sotos syndrome, a rare condition which prevented his brain from developing.
I'll never know whether my son Spenser, who has Sotos syndrome, was excluded from that birthday party, but I'll clue you in on how I decided to handle similar situations in the future.