Term Name:	spondylocarpotarsal synostosis syndrome
Synonyms:	congenital scoliosis with unilateral unsegmented bar, congenital synspondylism, SCT, spondylocarpotarsal syndrome, spondylocarpotarsal synostosis, vertebral fusion with carpal coalition
Definition:	A bone development disease that is 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, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3.
Ontology:	Human Disease [DOID:0090116]   ( DOID:0090116 )