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Spondylocarpotarsal synostosis syndrome

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Spondylocarpotarsal 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.

Causal genes
FLNB
Also known as
scoliosis, congenital with unilateral unsegmented bar · SCT · spondylocarpotarsal syndrome · spondylocarpotarsal synostosis · Synspondylism

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