Spondylocarpotarsal synostosis

Spondylocarpotarsal synostosis is a rare disease involving a fusion of the vertebral bodies (often in the form of an unsegmented rod) and merging of the metatarsal and metatarsal bones. In most cases, the disease is inherited as an autosomal recessive trait due to mutations in the FLNB gene, in the chromosome region 3p14.3, which codes for filamine B.

In some families, the disease is autosomal dominant, with no filamin B mutations found. The disease belongs to the FLNB-associated group (other related disorders include boomerang dysplasia and Larsen syndrome).

Patients with spondylocarpotarsal synostosis is a rare disease involving a fusion of the vertebral bodies (often in the form of an unsegmented rod) and merging of the metatarsal and metatarsal bones.have a normal or near-normal birth length, but progressive vertebral body fusion postnatally results in a growth retardation predominantly of the trunk and thus disproportionate growth. Scoliosis is common, but variable in severity and time of onset due to the size and pattern of vertebral body fusion.

The intelligence of those affected is normal.