Sly syndrome

Also known as: Mucopolysaccharidosis type VII

Lysosomal storage disease from beta-glucuronidase deficiency.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric metabolism
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, including hydrops fetalis
Gene(s) involved: GUSB

Etiology & mechanism

GUSB deficiency.

Gene(s) involved (1)

GUSB

Symptoms & signs (5)

coarse faciesdevelopmental delaydysostosis multiplexhepatosplenomegalyhydrops fetalis

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