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