| Metadata | |
|---|---|
| ID | DOID:0090116 |
| Name | spondylocarpotarsal synostosis syndrome |
| 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. https://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/29566257, https://www.omim.org/entry/272460 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital scoliosis with unilateral unsegmented bar [EXACT] congenital synspondylism [EXACT] SCT [EXACT] spondylocarpotarsal syndrome [EXACT] spondylocarpotarsal synostosis [EXACT] vertebral fusion with carpal coalition [EXACT] |
| Parent Relationships |
is_a spinal disease |