Spondylocarpotarsal synostosis syndrome or congenital synspondylism is a rare disorder characterised by vertebral fusions, frequently manifesting as an unsegmented vertebral bar, as well as fusions of the carpal and tarsal bones. Linkage analysis localised the disease gene to chromosome 3p14 and encoding filamin B. Transmission is autosomal recessive. However, genetic heterogeneity seems to exist as some families with autosomal dominant transmission and no filamine B mutation have been described. They are being investigated.
Last update: August 2006