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Article

Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor.

American journal of medical genetics. Part A - 1 Apr 2016

McClelland Jessie, Burgess Bronwyn, Crock Patricia, Goel Himanshu

Abstract excerpt

Sotos syndrome is a childhood overgrowth syndrome characterized clinically by a distinctive facial gestalt, advanced bone age, childhood overgrowth, and non-progressive developmental delay; and genetically by haploinsufficiency of the Nuclear receptor binding SET Domain 1 (NSD1) gene. Generalized lymphedema has not previously been associated with Sotos syndrome. Generalized lymphedema has been associated with...

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Share to NSD1 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26738611
DOI: 10.1002/ajmg.a.37535

Genes

NSD1
FLT4
SET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor.PMID 26738611Read ↗

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A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.Semantic proximity Read ↗

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.Semantic proximity Read ↗

Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome.Semantic proximity Read ↗

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.Semantic proximity Read ↗

First report of tethered cord syndrome in a patient with Sotos syndrome.Semantic proximity Read ↗

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.Semantic proximity Read ↗

Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the NSD1 Gene and Literature Analysis in the Chinese Han Population.Semantic proximity Read ↗

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Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.Semantic proximity Read ↗

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.Semantic proximity Read ↗

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