Spondylocarpotarsal synostosis syndrome (SCT) is a disorder that affects bone development. Newborns with this disorder are often born with normal weight and height. Over time, bones in the spine, wrists, and ankles join together incorrectly (fuse), or do not align properly. Problems include a curved lower back (lordosis) or a curved, snake-like spine (scoliosis). Individuals with SCT often have affected wrists, ankles, feet, a large forehead, a rounded face, and nostrils that open upward. Other characteristics include an opening or split in the top of the mouth (cleft palate), trouble hearing, and very flexible joints. People with SCT have normal mental development.
SCT is inherited as an autosomal recessive manner, which means the child must inherit one genetic mutation (change) from each parent in order to cause symptoms.
SCT is caused by mutations in the FLNB gene. This gene is in charge of a protein called filamin B. This protein gives cells structure and allows them to move properly. Filamin B is very important in the growth of the skeleton during pregnancy. This protein makes sure cells are growing and dividing properly before birth. Individuals with SCT do not have a filamin B protein that works properly.
Diagnosis is often made later in childhood. X-rays called radiographs are used to make a proper diagnosis. Genetic tests look for changes in the FLNB gene. If changes are found that are known to cause a problem, a diagnosis of SCT is made. SCT does not affect life expectancy. Management options include physical therapy, use of braces and casts, and/or surgery. A common surgery is a procedure that fixes the bones in the spine. Individuals with SCT may need pain management throughout their lives.
If you or a family member has been diagnosed with SCT, talk to your doctor about the most current treatment options. Support groups are also good sources of support and information.