Spondylocostal Dysostosis 3, Autosomal Recessive; Scdo3
Genes related to Spondylocostal Dysostosis 3, Autosomal Recessive; Scdo3
- LFNG
Clinical Features
Phenotypes and symptoms related to Spondylocostal Dysostosis 3, Autosomal Recessive; Scdo3
- Scoliosis
- Camptodactyly
- Arachnodactyly
- Abnormal vertebral morphology
- Vertebral segmentation defect
- Slender finger
- Supernumerary vertebral ossification centers
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Accelerate your rare disease diagnosis with us
Spondylocostal Dysostosis 3, Autosomal Recessive; Scdo3 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 LFNG - Spondylocostal dysostosis 3.
By Centre of Molecular Diseases (CMM) CHUV (Switzerland).
LFNG
Specificity
100 %
Genes
100 % |
 LFNG. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
LFNG
Specificity
100 %
Genes
100 % |
|
HES7, MESP2, LFNG, DLL3. NextGeneDx. Complete sequencing by NGS.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
HES7, DLL3, MESP2, LFNG
Specificity
25 %
Genes
100 % |
 Spondylocostal dysostosis type 3 AR (sequence analysis of LFNG gene).
By CGC Genetics (Portugal).
LFNG
Specificity
100 %
Genes
100 % |
|
Spondylocostal dysostosis (NGS panel of 6 genes).
By CGC Genetics (Portugal).
TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG
Specificity
17 %
Genes
100 % |
|
Spondylocostal dysostosis (NGS panel of 6 genes).
By CGC Genetics (Portugal).
TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG
Specificity
17 %
Genes
100 % |
 LFNG-Related Spondylocostal Dysostosis, Autosomal Recessive.
By Exeter Molecular Genetics Laboratory (United Kingdom).
LFNG
Specificity
100 %
Genes
100 % |
 Spondylocostal Dysostosis via LFNG Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
LFNG
Specificity
100 %
Genes
100 % |
Sources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA; PPKP1A MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED CARDIOMYOPATHY, DILATED, 1HH; CMD1HH PSEUDOXANTHOMA ELASTICUM; PXE
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
