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 No data available
PHENOTYPE No data available

CITATIONS: None