Shashi-Pena Syndrome (SHAPNS)

Shashi-Pena Syndrome, also known as shapns, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and glucose intolerance. An important gene associated with Shashi-Pena Syndrome is ASXL2 (ASXL Transcriptional Regulator 2). Affiliated tissues include bone and brain, and related phenotypes are macrocephaly and hypotonia