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Hyaluronidase deficiency
Disease definition
A rare form of mucopolysaccharidosis characterized by abnormal storage of hyaluronan in lysosomes due to deficiency of hyaluronidase 1. Clinical manifestations include knee and/or hip pain associated with swelling, diffuse joint involvement with proliferative synovitis and occurrence of multiple periarticular soft-tissue masses, short stature, and dysmorphic craniofacial features (such as flattened nasal bridge, bifid uvula, and cleft palate).
ORPHA:67041
Classification level: DisorderA summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)
Detailed information
General public
- Article for general public
- English (2013, pdf) - FPD RD unit
- Suomi (2013, pdf) - FPD RD unit
- Svenska (2013, pdf) - FPD RD unit
Guidelines
- Clinical practice guidelines
- Français (2016) - PNDS
Clinical Outcome Assessment (COA)
- Patient-Centered Outcome Measures (PCOMs)
- English (2023) - PROQOLIDTM


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.