Deutsch
IllnessCleidocranial dysostosis
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Cleidocraniale dysostosis
ID
KS0870
Number of genes
1
Accredited laboratory test
Examined sequence length
1,6 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 +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Heredity |
|---|---|---|---|
| RUNX2 | 1566 | AD |
Informations about the disease
Clinical Comment
Developmental bone abnormality with hypoplastic or aplastic clavicles, persistence of wide-open fontanels; sutures + multiple dental abnormalities
Synonyms
- Cleidocranial dysostosis (RUNX2)
- Cleidocranial dysplasia (RUNX2)
- Cleidocranial dysplasia, forme fruste, dental anomalies only (RUNX2)
- Cleidocranial dysplasia, forme fruste, with brachydactyly (RUNX2)
- Metaphyseal dysplasia with maxillary hypoplasia with/without brachydactyly (RUNX2)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
Q74.0
Bioinformatics and clinical interpretation
No text defined