Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. Disease data Classification Malformation syndrome Synonyms Pierre Robin sequence-congenital heart defect-talipes syndrome Sekwencja Pierre'a i Robina - wrodzona wada serca - stopa końsko-szpotawa Stopa końsko-szpotawa - wada przegrody międzyprzedsionkowej - sekwencja Robina - przetrwała żyła główna górna lewa Zespół Pierre'a i Robina - wrodzona wada serca - stopa końsko-szpotawa Pierre Robin syndrome-congenital heart defect-talipes syndrome Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome ORPHA code 2886 OMIM code 311900 ICD10 code Q87.8 ICD11 code LD2F.1Y *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