Simpson–Golabi–Behmel syndrome

Also known as: SGBS

X-linked overgrowth with embryonal tumor risk.

Medical specialty: Nephrology
Subspecialty: Nephrology / Renal oncology
Sex & age distribution: Male: affected; Female: carriers mild; Children: yes
Gene(s) involved: GPC3, GPC4, OFD1

Etiology & mechanism

GPC3 variants.

Gene(s) involved (3)

GPC3GPC4OFD1

Symptoms & signs (7)

cleft palatemacroglossiamacrosomiapolydactylyrenal dysplasiasupernumerary nippleswilms tumor

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