Orphanet: Autosomal recessive spondylocostal dysostosis

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Autosomal recessive spondylocostal dysostosis

Disease definition

A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.


Classification level: Disorder
  • Synonym(s):
    • Jarcho-Levin syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q76.8
  • OMIM: 277300  608681  609813  613686  616566
  • UMLS: C0265343  C2931020
  • MeSH: C535781  C537565
  • GARD: 6798
  • MedDRA: -

Detailed information


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