spondylocostal dysostosis

ICD-10: Q76ORPHA: 1797

Overview

dysostosis that results in abnormal development located in vertebrae or located in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together

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 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

ICD-10 Code

Q76

Orphanet Code

ORPHA:1797
spondylocostal dysostosis
ICD-10Q76
OrphanetORPHA:1797
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO