SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: SCDO3
Number of Symptoms 5
OrphanetNr:
OMIM Id: 609813
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001238) Slender finger 23 / 7739
2
 (HPO:0004598) Supernumerary vertebral ossification centers 2 / 7739
3
 (HPO:0002650) Scoliosis 705 / 7739
4
 (HPO:0003422) Vertebral segmentation defect 95 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sparrow et al. (2006) reported a proband of Lebanese background who presented with extensive congenital vertebral anomalies; long, slender fingers; and camptodactyly of the left index finger. X-ray and magnetic resonance imaging (MRI) scans showed multiple vertebral ossification ...
Molecular genetics OMIM Sparrow et al. (2006) found no mutations in either the DLL3 (602768) or MESP2 genes in their patient and selected the LFNG gene as a candidate for screening based on the phenotype of the homologous mouse mutant. They ...