autosomal dominant spondylocostal dysostosis
ORPHA: 1797
Overview
Autosomal dominant spondylocostal dysostosis is 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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autosomal dominant spondylocostal dysostosis, sourced from HPO and Orphanet clinical annotations.
Intrauterine growth retardationScoliosisVertebral segmentation defectSevere short statureProminent occiputWide nasal bridgeAnteverted naresShort neckUpslanted palpebral fissureHyperlordosisShort thoraxAbnormal morphology of female internal genitaliaCleft palateMicrocephalyMacrocephalyAbnormal rib morphologyPosterior rib fusionMissing ribsRecurrent respiratory infectionsSpina bifida occultaAbnormal sacrum morphologyAbnormal cardiovascular system morphology
Classification & Codes
Orphanet Code
ORPHA:1797autosomal dominant spondylocostal dysostosis
| Orphanet | ORPHA:1797 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO