Short Rib Polydactyly Syndrome

Overview

Type of disease: Rare conditions

Short Rib Polydactyly syndrome (SRPS) is a group of recessively inherited lethal skeletal dysplasia. Skeletal dysplasia is a complex group of bone and cartilage disorders that may affect the fetal skeleton as it develops, often resulting in dwarfism. SRPS is characterized by short limb dwarfism complicated by underdevelopment of the chest (thoracic hypoplasia), having extra fingers and/or toes (poldactyly), and different abnormalities of major organs, such as heart defects. There are four subtypes: SRPS I, SRPS II, SRPS III, SRPS IV.

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