ORPHA:580
Mucopolysaccharidosis type 2
Also called Hunter syndrome, Iduronate 2-sulfatase deficiency, MPS2, MPSII, Mucopolysaccharidosis type II
- Body system
- Bone diseases
- Inheritance pattern
- X-linked recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- 1-9 / 100 000 (Italy)
- Rarity class
- 1-9 / 100 000
ORPHA:580 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Macrocephaly
- Coarse facial features
- Limitation of joint mobility
- Abnormal heart morphology
- Short stature
- Inguinal hernia