OBO ID: DOID:0090116
Term Name: spondylocarpotarsal synostosis syndrome Search Ontology:
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. (3)
References:
Ontology: Human Disease   (DOID:0090116)
OTHER spondylocarpotarsal synostosis syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FLNB Spondylocarpotarsal synostosis syndrome 272460
ZEBRAFISH MODELS
Fish Conditions Citations
smyhc1stl582/stl582 standard conditions Whittle et al., 2020
PHENOTYPE No data available

CITATIONS (1)