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Autosomal recessive spondylocostal dysostosis

What is Autosomal recessive spondylocostal dysostosis?

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.

Other condition names

  • Jarcho-Levin syndrome

Inheritance type

Autosomal recessive

Age of Onset

  • Antenatal
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.