Human genes for spondylocarpotarsal synostosis syndrome
Spondylocarpotarsal synostosis syndrome [DOID:0090116]
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.
Synonyms: spondylocarpotarsal synostosis syndrome, DOID:0090116, spondylocarpotarsal synostosis disease, spondylocarpotarsal synostosis disorder, spondylocarpotarsal synostosis syndromes ...