TARP syndrome

TARP syndrome is a rare developmental disorder that starts during embryogenesis. It is marked by a group of congenital differences, including a Robin sequence, which means people may have a small lower jaw (micrognathia), tongue displacement (glossoptosis), and a cleft palate. There can also be heart differences, such as an atrial septal defect, and issues with blood vessels, like the persistence of the left superior vena cava, along with a clubfoot (talipes equinovarus). In addition, some people with this condition may have other distinguishing features such as wide-set eyes (hypertelorism), ear abnormalities, and hand or foot differences like syndactyly (joined fingers or toes) or polydactyly (extra digits). Brain differences, including a smaller cerebellum (cerebellar hypoplasia), have also been reported in some cases. The overall presentation can vary, but the condition is severe and typically life-limiting.

Common signs of TARP syndrome include the Robin sequence (micrognathia, glossoptosis, and cleft palate), an atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus (clubfoot). In some cases, there are also differences in facial features, ear shape, and limb structure, such as syndactyly or polydactyly, along with possible brain abnormalities.

TARP syndrome is caused by changes in a gene called RBM10. It is inherited in an X-linked recessive pattern, which means the gene alteration is on the X chromosome.

Information about treatment is currently limited for this condition.

TARP syndrome is considered severe, with most affected males either dying before birth or living only a few months. The condition has a very serious impact on lifespan.

Information about current research is currently limited for this condition.