Short rib-polydactyly syndrome, Saldino-Noonan type

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Synonyms: Short rib-polydactyly syndrome type 1

A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax very short limbs absent or very small fibulae severe metaphyseal dysplasia of tubular bones post-axial polydactyly and defective ossification in the calvaria vertebrae pelvis and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described such as polycystic kidneys transposition of the great vessels and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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