Deutsch
IllnessCurrarino triad
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Currarino triad
ID
CS7531
Number of genes
0
Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
No genes linked
Informations about the disease
Clinical Comment
Partial sacral agenesis (intact first sacral vertebra = sickle-shaped sacrum), presacral mass and anorectal malformation. Currarino triad with phenotypic variability, mostly not all 3 defects, some patients asymptomatic.
Synonyms
- Alias: Currarino syndrome (MNX1)
- Alias: Sacral agenesis syndrome (MNX1)
- Meningocele, and/or teratoma, anorectal malformation (MNX1)
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined