Mondo Description Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically 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.
Uniprot Description Disorder characterized by short stature and vertebral, carpal and tarsal fusions.
Disease Ontology Description A bone development disease 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 that has_material_basis_in mutation in the FLNB gene on chromosome 3p14.3.
Download Data for spondylocarpotarsal synostosis syndrome
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0090116
GARD:0004974
MESH:C535780
OMIM:272460
Orphanet:3275
SCTID:702351004
UMLS:C1848934
MONDO:0010094
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.