Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures. Disease data Classification Disease Synonyms RCDP RCDP ORPHA code 177 OMIM code 600121 ICD10 code Q77.3 ICD11 code LD24.04 *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