1. Diseases
  2. Autosomal recessive spondylocostal dysostosis

Autosomal recessive spondylocostal dysostosis

Disease Export to PDF
Name:
Autosomal recessive spondylocostal dysostosis
Description:
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.
ORPHAcode:
2311
Synonyms:
Jarcho-Levin syndrome
XREF(s):
Orphanet
MeSH
OMIM
OMIM
OMIM
OMIM
OMIM
ICD-10
MeSH
Analyte(s):
DLL3
MESP2
LFNG
HES7
RIPPLY2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14