Description of the disease * EnglishPolish Pobierz sekcję do PDF 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). Disease data Classification Disease Synonyms MPS9 MPS9 MPSIX Mukopolisacharydoza typu 9 Mukopolisacharydoza typu IX MPSIX Mucopolysaccharidosis type 9 Mucopolysaccharidosis type IX ORPHA code 67041 OMIM code 601492 ICD10 code E76.2 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl