spondylocarpotarsal synostosis syndrome

Summary

DOID:0090116 - spondylocarpotarsal synostosis syndrome

Disease Ontology 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.

Synonyms: SCT, congenital scoliosis with unilateral unsegmented bar , congenital synspondylism, spondylocarpotarsal syndrome, spondylocarpotarsal synostosis, vertebral fusion with carpal coalition,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: flnb, myh3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010094 - spondylocarpotarsal synostosis syndrome

MONDO:0010094 - spondylocarpotarsal synostosis syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), bone development disease (is_a), spinal disease (is_a)