Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare lysosomal disease characterized by dysmorphic features and skeletal changes, restricted joint mobility, short stature, and hand deformities (such as claw hands, stiffness of hands, carpal tunnel syndrome, inability to make fists). Most patients have normal intellectual capacity and the clinical progression is less rapid than that of mucolipidosis type II (MLII). Disease data Classification Disease Synonyms Pseudo-Hurler polydystrophy Polidystrofia pseudo-Hurler ORPHA code 577 OMIM code 252605 ICD10 code E77.0 ICD11 code 5C56.20 *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