Crouzon syndrome

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Synonyms: Vogt's syndrome, dysostosis craniofacialis hereditaria, dysostosis cranio-orbito-facialis

The syndrome is named after the French physician Louis Edouard Octave Crouzon[1]

Genetics:

  • OMIM: 123500
  • syndrome the syndrome is caused by a mutation in the gene for fibroblast growth factor receptor-2 (FGFR2; 10q26)
  • Heredity: autosomal dominant
  • There is also a rarer form of Crouzon syndrome with acanthosis nigrigancs (OMIM 612247), which is due to a specific missense mutation in the FGFR3 gene in the region of 4p16.3.

Characteristics:


Links[edit | edit source]

References[edit | edit source]

  1. OLE DANIEL, Enersen. Whonamedit - Apert-Crouzon syndrome [online]. [cit. 2011-04-24]. <http://www.whonamedit.com/synd.cfm/1383.html>.

References[edit | edit source]

  • LAZOVSKIS, Ilmars – DOBIÁŠ, Václav. Overview of clinical symptoms and syndromes. 2. edition. Avicenum, zdravotnické nakladatelství, 1990. 0 pp. ISBN 80-201-0043-1.