mucopolysaccharidosis type VII

info · Genetic · ICD-10: E76.29

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.

Signs and symptoms

Epicanthus
Severe short stature
Reduced tissue beta-glucuronidase activity
Spatulate ribs
Postnatal growth retardation
Diastasis recti
Pectus excavatum
Umbilical hernia
Protuberant abdomen
Accelerated skeletal maturation

Also known as: MPS VII - Sly syndrome; Sly syndrome; beta-glucuronidase deficiency; deficiency of beta-glucuronidase; mucopolysaccharidosis VII