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spondylocarpotarsal synostosis syndrome
Summary
- Synonym
-
- SCT
- congenital scoliosis with unilateral unsegmented bar
- congenital synspondylism
- 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.
- Super Class
- autosomal recessive disease bone development disease spinal disease
External Links
- Disease Ontology
- DOID:0090116
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
