Sotos syndrome

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Total: 4

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PMID (PMCID)
29383847	FEMALE
	Growth pattern of Rahman syndrome.
	Takenouchi T, Uehara T, Kosaki K, Mizuno S. Am J Med Genet A. 2018;176(3):712-714.
	This "lack of overgrowth in overgrowth syndrome" is reminiscent of a subset of patients with a short stature who have Sotos syndrome, a prototypic overgrowth syndrome.
28128410	MALE
	A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil.
	Reis FG, Pinto IP, Minasi LB, Melo AV, Cunha DM, Ribeiro CL, da Silva CC, Silva DM, da Cruz AD. Genet Mol Res. 2017;16(1):.
	The proband had microduplication in the chromosomal region containing NSD1, which resulted in a Sotos syndrome reversed phenotype, and this duplication was associated with microcephaly, short stature, and developmental delay.
19844260	MALE	Child
	A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
	Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW. Eur J Hum Genet. 2010;18(2):258-61.
	A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
12900893	FEMALE
	A novel 5q35.3 subtelomeric deletion syndrome.
	Rauch A, Beese M, Mayatepek E, Dorr HG, Wenzel D, Reis A, Trautmann U. Am J Med Genet A. 2003;121A(1):1-8.
	Subtracting the symptoms of Sotos syndrome from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, failure to thrive with postnatal short stature, and multiple minor anomalies such as mildly bell-shaped chest, minor congenital heart disease, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion.