Autosomal recessive spondylocostal dysostosis
ORPHA:2311· ICD-10 Q76.8
Definition
A rare genetic axial skeletal dysostosis characterized by multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs (malalignment, intercostal fusion and possible reduction in rib number), leading to short trunk in proportion to height, short neck and non-progressive scoliosis that is typically mild.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal