ORPHA:581
Mucopolysaccharidosis type 3
Also called MPS3, MPSIII, Mucopolysaccharidosis type III, Sanfilippo disease, Sanfilippo syndrome
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- 1-9 / 1 000 000 (Brazil)
- Rarity class
- 1-9 / 1 000 000
ORPHA:581 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Chronic otitis media
- Delayed speech and language development
- Malabsorption
- Coarse hair
- Generalized hirsutism
- Progressive neurologic deterioration