Short rib-polydactyly syndrome, Saldino-Noonan type
Short rib-polydactyly syndrome, Saldino-Noonan type, is a form of congenital osteochondrodysplasia. The disease is lethal and characterized by shortened ribs and an underdeveloped lung.
Other features include polydactyly, long bone dysplasia, and malformations of the internal organs, such as complex heart defects, short bowel, and renal hypoplasia.
The disease is inherited as an autosomal recessive trait.