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Cleidocranial dysplasia and isolated cranial ossification defect

MedGen UID:
1843248
•Concept ID:
C5681593
•
Disease or Syndrome
Orphanet: ORPHA93451

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCleidocranial dysplasia and isolated cranial ossification defect

Recent clinical studies

Clinical prediction guides

Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.
Garcia-Miñaur S, Mavrogiannis LA, Rannan-Eliya SV, Hendry MA, Liston WA, Porteous ME, Wilkie AO
Eur J Hum Genet 2003 Nov;11(11):892-5. doi: 10.1038/sj.ejhg.5201062. PMID: 14571277

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