Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature

Eur J Med Genet. 2020 Feb;63(2):103652. doi: 10.1016/j.ejmg.2019.04.009. Epub 2019 Apr 13.


Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES). Patients with MGS caused by mutations in CDC45 display a distinct phenotype characterized by craniosynostosis and anorectal malformation. Our patient had craniosynostosis, anorectal malformation and short stature, but did not have the microtia or patella hypoplasia. Our report also highlights the value of WES in aiding diagnosis of patients with rare genetic diseases. In conclusion, our case report and review of the literature illustrates the unique features of CDC45-related MGS as well as the benefits of WES in reducing the diagnostic odyssey for patients with rare genetic disorders.

Keywords: Craniosynostosis; Diagnostic odyssey; Meier-Gorlin syndrome; anorectal malformations; whole exome sequencing.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / physiopathology
  • Anorectal Malformations / genetics
  • Anorectal Malformations / physiopathology
  • Cell Cycle Proteins / genetics*
  • Congenital Microtia / diagnosis*
  • Congenital Microtia / genetics*
  • Craniosynostoses / genetics
  • Craniosynostoses / physiopathology
  • Exome Sequencing
  • Female
  • Growth Disorders / congenital
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics*
  • Humans
  • Micrognathism / diagnosis*
  • Micrognathism / genetics*
  • Mutation
  • Patella / abnormalities*
  • Phenotype
  • Rare Diseases / genetics
  • Rare Diseases / physiopathology


  • CDC45 protein, human
  • Cell Cycle Proteins

Supplementary concepts

  • Meier-Gorlin syndrome