Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described. Disease data Classification Malformation syndrome Synonyms Autosomal recessive intermediate osteopetrosis Autosomalna recesywna osteopetroza pośrednia ORPHA code 210110 OMIM code 611497 ICD10 code Q78.2 ICD11 code LD24.10 *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