/spondylocarpotarsal synostosis syndrome

spondylocarpotarsal synostosis syndrome

Rare Disease

MONDO:0010094

Also Known As

SCTSynspondylismcongenital scoliosis with unilateral unsegmented barcongenital synspondylismspondylocarpotarsal syndromespondylocarpotarsal synostosisspondylocarpotarsal synostosis syndromevertebral fusion with carpal coalitionSynspondylism congenitalSynspondylism, congenitalscoliosis, congenital with unilateral unsegmented barscoliosis, congenital, with unilateral unsegmented Bar

Definition

Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.