Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. Disease data Classification Disease Synonyms Spondyloepimetaphyseal dysplasia, Pakistani type Spondyloepimetaphyseal dysplasia, Pakistani type ORPHA code 93282 OMIM code 612847 ICD10 code Q77.7 ICD11 code - *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