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spondylocarpotarsal synostosis syndrome

Disease Summary
Associated Targets (2)
Tbio

2


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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.
Mondo Term and Equivalent IDs
MONDO:0010094:  spondylocarpotarsal synostosis syndrome
GARD:0004974: 
MESH:C535780: 
Orphanet:3275: 
SCTID:702351004: 
UMLS:C1848934: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)