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Spondylocamptodactyly syndrome

ORPHA:3180· ICD-10 Q87.5

Definition

A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995.

Prevalence
<1 / 1 000 000
Age of onset
Neonatal