Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare lysosomal storage disease characterized by mild to severe spondylo-epiphyso-metaphyseal dysplasia, manifesting with disproportionate short stature (short neck and trunk), joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities (kyphosis and scoliosis), respiratory impairment and valvular heart disease. Disease data Classification Disease Synonyms MPS4 Choroba Morquio MPS4 MPSIV Mukopolisacharydoza typu IV MPSIV Morquio disease Mucopolysaccharidosis type IV ORPHA code 582 OMIM code 253010 ICD10 code E76.2 ICD11 code 5C56.32 *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