Weaver syndrome

Also known as: Weaver–Smith syndrome

Overgrowth syndrome with advanced bone age and distinctive facies.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: EED, EZH2, SUZ12

Etiology & mechanism

EZH2 variants alter chromatin methylation.

Gene(s) involved (3)

EEDEZH2SUZ12

Symptoms & signs (7)

advanced bone agecamptodactylydevelopmental delayhypertelorismmacrocephalytall statureumbilical hernia

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