Sotos syndrome

Also known as: Cerebral gigantism

Overgrowth with macrocephaly and developmental delay.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, birth
Gene(s) involved: NFIX, NSD1

Etiology & mechanism

NSD1 haploinsufficiency.

Gene(s) involved (2)

NFIXNSD1

Symptoms & signs (9)

advanced bone agecardiac anomaliesdevelopmental delayhypotoniamacrocephalyprominent foreheadscoliosisseizurestall stature

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.