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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessCleidocranial dysostosis

Request form illness

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
RUNX21566NM_001024630.4AD

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

Bioinformatics and clinical interpretation

No text defined