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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

Pathogenic variants in the RUNX2 gene are the cause of cleidocranial dysplasia (CCD). Typical clinical symptoms of CCD affect the clavicles (hypoplasia or aplasia), the fontanelles and cranial sutures (large fontanelles and cranial sutures that may be wide open even in adulthood) and, in many cases, dental anomalies (late eruption of permanent teeth, supernumerary teeth). Often patients also have a characteristic facies (broad, flat forehead; hypertelorism; midface hypoplasia; pointed chin). Frequent infections may occur. CCD is inherited in an autosomal dominant manner with high penetrance and variable expressivity.

An inconspicuous test does not conclusively rule out a genetic cause of the symptoms.

(according to: https://www.orpha.net/de/disease/detail/1452;www.ncbi.nlm.nih.gov/books/NBK1513/)

 

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