The name TARP syndrome comes from the four clinical findings in the first family that was described in the medical literature. T stands for talipes equinovarus, which is the medical term for club foot. Some, but not all, individuals with TARP syndrome are born with club feet, and in some case, there are differences in the bone structure of their hands or feet and pattern of creases. A stands for atrial septal defect (ASD), which is a hole between the right and left atria of the heart, and is the most common heart finding in individuals with TARP syndrome (other differences in how the heart forms or develops have also been found). The R stands for Robin sequence, which means that some individuals with TARP syndrome have a small, recessed chin, and a tongue that is set back in the mouth, often accompanied by cleft palate. The P stands for persistence of the left superior vena cava, which is a part of the circulation to the heart that is normally found in the fetus, but rarely persists after birth. We now know that the four features that TARP syndrome was originally named for are not always present (sometimes none of them), but we can still diagnose it based on finding changes in the RBM10 gene, which was identified as the causative gene in TARP syndrome. There are also sometimes other concerns in TARP syndrome, such as developmental delays that may be accompanied by differences on brain MRI, low muscle tone, kidney anomalies, and sometimes intestinal malrotation. Importantly, while TARP syndrome can be a serious, life-limiting condition, we know that it can also be compatible with survival into adulthood and achievement of developmental milestones such as speech or walking. Early intervention with therapies will help maximize the potential of any child with TARP syndrome.
RBM10