Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. Disease data Classification Disease Synonyms X-linked spondylometaphyseal dysplasia Dysplazja kręgowo-przynasadowa sprzężona z chromosomem X ORPHA code 168544 OMIM code 313420 ICD10 code Q77.8 ICD11 code LD24.4 *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