Mukopolysakkaridose type 9
Engelsk navn: Hyaluronidase deficiency
Engelske synonym: MPS9,MPSIX,Mucopolysaccharidosis type 9,Mucopolysaccharidosis type IX
Definisjon
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).
Fra Orphanet
ORPHA: 67041
Klassifiseringsnivå: Disorder
ICD-10: E76.2
Mer informasjon
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