Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare primary bone dysplasia characterized by congenital symmetric or asymmetric shortness and bowing of long bones, resulting in shortness of limbs and limited extension at the knees and elbows. Additional reported features are ''beaten metal'' appearance of the skull, dolichomacrocephaly, ocular hypertelorism, and anterior beaking and bone-within-bone appearance of vertebrae. There have been no further descriptions in the literature since 1993. Disease data Classification Malformation syndrome Synonyms Wrodzony zespół wygięcia kości długich, niskiego wzrostu, dolichomakrocefalii i hiperteloryzmu ocznego ORPHA code 2292 OMIM code 264050 ICD10 code Q68.5 ICD11 code LB96.1 *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