Beckwith–Wiedemann syndrome

Also known as: BWS; EMG syndrome

Overgrowth imprinting disorder with macroglossia, omphalocele and neonatal hypoglycemia.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, birth
Gene(s) involved: CDKN1C, H19, IGF2, KCNQ1OT1

Etiology & mechanism

Dysregulation of imprinted growth genes at 11p15.5.

Gene(s) involved (4)

CDKN1CH19IGF2KCNQ1OT1

Symptoms & signs (8)

ear creasesembryonal tumors (wilms tumor)hemihypertrophymacroglossiamacrosomianeonatal hypoglycemiaomphaloceleorganomegaly

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