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.

High anterior hairline

Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.


合計: 1

                      


(表示件数)
PMID (PMCID)
25118028
MIXED_SAMPLE Infant
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA, Scott RH.
Eur J Hum Genet. 2015;23(5):610-5.
There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin.