spondylocarpotarsal synostosis syndrome

Term ID

DOID:0090116

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. (2)

References

• GARD:4974
• ICD10CM:Q76.4
• MIM:272460
• ORDO:3275

Ontology

Human Disease   ( DOID:0090116 )