Autosomal dominant spondylocostal dysostose


Engelsk navn: Autosomal dominant spondylocostal dysostosis
Engelske synonym: Autosomal dominant spondylocostal dysplasia


Definisjon

A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

Fra Orphanet

ORPHA: 1797
Klassifiseringsnivå: Disorder
ICD-10: Q76.4

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