Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. Disease data Classification Disease Synonyms Rosenberg-Lohr syndrome Zespół Rosenberga i Lohra ORPHA code 1837 OMIM code 191420 ICD10 code Q78.5 ICD11 code LD24.7 *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