Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period. Disease data Classification Malformation syndrome Synonyms Short rib-polydactyly syndrome type 3 Zespół krótkie żebro-polidaktylia typu 3 ORPHA code 93271 OMIM code 615633 ICD10 code Q77.2 ICD11 code - *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