ORPHA:584
Mucopolysaccharidosis type 7
Also called Beta-glucuronidase deficiency, MPS7, MPSVII, Mucopolysaccharidosis type VII, Sly disease
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Adolescent, Antenatal, Childhood, Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Europe)
- Rarity class
- <1 / 1 000 000
ORPHA:584 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Inguinal hernia
- Coarse facial features
- Lymphedema
- Intellectual disability
- Umbilical hernia
- Ascites