Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. Disease data Classification Malformation syndrome Synonyms Chondrodysplasia, Grebe type Chondrodysplazja, typu Grebe ORPHA code 2098 OMIM code 200700 ICD10 code Q78.8 ICD11 code LD24.9 *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