Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare primary bone dysplasia due to matrilin-3 varaints and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. Disease data Classification Disease Synonyms SEMD, MATN3-related SEMD, typ matryliny-3 SEMD, związana z MATN3 SEMD, matrilin-3 type ORPHA code 156728 OMIM code 608728 ICD10 code Q77.7 ICD11 code LD24.3 *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