Sotos syndrome

Sotos syndrome

 [so´tōs]

cerebral gigantism.

Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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.

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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.

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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.

The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

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.

Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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

McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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.

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Sotos,

Juan F., U.S. pediatrician, 1927–.

Sotos syndrome - cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination.

Medical Eponyms © Farlex 2012

So·tos syn·drome

(sō'tōs sin'drōm) [MIM*117550]

Cerebral gigantism and generalized large muscles in childhood.

Medical Dictionary for the Dental Professions © Farlex 2012