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Spondylocarpotarsal synostosis syndrome
rareSpondylocarpotarsal 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.
- Identifiers
- MONDO:0010094 OMIM:272460Orphanet:3275
- Causal genes
- FLNB
- Also known as
- scoliosis, congenital with unilateral unsegmented bar · SCT · spondylocarpotarsal syndrome · spondylocarpotarsal synostosis · Synspondylism
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