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Start free with EleplanAutosomal recessive spondylocostal dysostosis
ORPHA:2311Malformation syndrome
Also called Jarcho-Levin syndrome
What it is
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.
Key facts
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
13- Abnormal form of the vertebral bodies
- Abnormal intervertebral disk morphology
- Abnormality of immune system physiology
- Abnormal rib morphology
- Intrauterine growth retardation
- Respiratory insufficiency
- Rib fusion
- Rib segmentation abnormalities
- Scoliosis
- Short neck
- Short stature
- Short thorax
- Vertebral segmentation defect
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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