spondylocarpotarsal synostosis syndrome (DOID:0090116)
Alliance: disease page
Synonyms: congenital scoliosis with unilateral unsegmented bar; congenital synspondylism; SCT; spondylocarpotarsal syndrome; spondylocarpotarsal synostosis; vertebral fusion with carpal coalition
Alt IDs: OMIM:272460, ICD10CM:Q76.4, ORDO:3275
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.