Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency. Disease data Klasyfikacja Malformation syndrome Kod ORPHA 2371 Kod OMIM 245650 Kod ICD10 Q74.8 Kod ICD11 LD24.E *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