Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and <i>genu valgum</i>. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and <i>pectus excavatum</i>. Disease data Klasyfikacja Disease Synonimy Dysplazja wielonasadowa - makrocefalia - charakterystyczna twarz Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome Kod ORPHA 166024 Kod OMIM 607131 Kod ICD10 Q77.3 Kod ICD11 LD24.61 *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