Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality. Disease data Classification Malformation syndrome Synonyms Neonatal Schwartz-Jampel syndrome Dysplazja Stüve'a i Wiedemanna SJS2 Schwartz-Jampel syndrome type 2 Stüve-Wiedemann dysplasia ORPHA code 3206 OMIM code 601559 ICD10 code Q78.8 ICD11 code LD24.C *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