Details of Disease

General Information of Disease (ID: DISAJI27)

• Disease Name: Autosomal recessive spondylocostal dysostosis
• Synonyms: SCDO1; costovertebral dysplasia; spondylocostal dysostosis 1, autosomal recessive; Jarcho-Levin syndrome; spondylocostal dysostosis, autosomal recessive
• Definition: Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized 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.
• Disease Hierarchy:
  DISTBQZF: Disorder of fucoglycosan synthesis
  DISCPWH9: Autosomal recessive disease
  DISTPWFK: Spondylocostal dysostosis
  DISAJI27: Autosomal recessive spondylocostal dysostosis

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DLL3	TT1C9K6	Supportive	Autosomal recessive	[1]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DLL3	OTLXE1TX	Supportive	Autosomal recessive	[1]
HES7	OT6F9R7P	Supportive	Autosomal recessive	[1]
LFNG	OTPSUBN2	Supportive	Autosomal recessive	[1]
MESP2	OT7H4LYA	Supportive	Autosomal recessive	[1]
RIPPLY2	OTDEEDLH	Supportive	Autosomal recessive	[2]

References

• [1] Spondylocostal Dysostosis, Autosomal Recessive. 2009 Aug 25 [updated 2023 Aug 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [2] Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Hum Mol Genet. 2015 Mar 1;24(5):1234-42. doi: 10.1093/hmg/ddu534. Epub 2014 Oct 24.