Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported. Disease data Klasyfikacja Malformation syndrome Kod ORPHA 2793 Kod OMIM 259780 Kod ICD10 Q87.5 Kod ICD11 LD27.4 *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