Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia, visual impairment (with early-onset progressive myopia, retinal thinning, and cataracts), and conductive hearing loss. Patients are of short stature and present brachydactyly, genu valgus deformity, and joint pain. Disease data Classification Disease Synonyms Multiple epiphyseal dysplasia-myopia-deafness syndrome Dysplazja wielonasadowa - miopia - głuchota Multiple epiphyseal dysplasia-myopia-hearing loss syndrome ORPHA code 166011 OMIM code 132450 ICD10 code Q77.3 ICD11 code LD24.61 *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