Glossary of Diagnoses and Terminology

The answers you desire with the compassion you deserve. Here you will find comprehensive information about congenital anomalies — written for families experiencing the emotional complexities of the diagnosis.

Short-rib polydactyly syndrome (SRPS)

Short-rib polydactyly syndrome (SRPS), is a group of incredibly rare, lethal skeletal dysplasias that are characterized by short ribs, short limbs, and the presence of extra fingers or toes (polydactyly). Short-rib polydactyly syndrome can vary in presentation based on the presence of congenital heart defects, cystic kidneys, polydactyly, central nervous system anomalies like agenesis of the corpus callosum, defects in bone formation of the skull and spine, and a midline cleft lip and/or cleft palate.

Short-rib polydactyly syndrome is associated with a variety of organ anomalies as well as polyhydramnios and hydrops fetalis. Short-rib polydactyly syndrome is typically not associated with chromosomal abnormalities, but a fetal karyotype test may be indicated. Short-rib polydactyly syndrome has a high occurrence of intrauterine fetal demise, and the condition is uniformly fatal in the perinatal period with the cause of death always being respiratory insufficiency.

Short-rib polydactyly syndrome is always inherited as an autosomal recessive disorder, meaning that the recurrence risk is 25%, or 1 in 4, for subsequent pregnancies. Due to this high recurrence rate, postmortem DNA analysis and autopsy are recommended in addition to parental genetic testing and counseling. [61]