Crouzon syndromeQ87.0
Synonym(s)
Dysostosis craniofacialis hereditaria
HistoryThis section has been translated automatically.
Crouzon, 1912
DefinitionThis section has been translated automatically.
Craniosynostosis with a combination of acanthosis nigricans benigna, skull anomalies, eye anomalies, hypoplasia of the upper jaw, sensorineural hearing loss and usually age-appropriate intelligence (in contrast to Apert syndrome, which has an analogous mutation).
EtiopathogenesisThis section has been translated automatically.
Mutation on the long arm of chromosome 10 (10q26) with point mutation in the fibroblast growth receptor 2 (FGFR2) gene.
TherapyThis section has been translated automatically.
Symptomatic therapy through appropriate discipline. Dermatological therapy of acanthosis nigricans is in the background.
LiteratureThis section has been translated automatically.
- Al-Namnam NM et al (2019) Crouzon syndrome: Genetic and intervention review. J Oral Biol Craniofac Res 9:37-39.
- Heubruck D et al. (2005) Neurophysiological disturbances in Apert and Crouzon syndrome. Mschr Pediatrics 153: 55-62
- Minashi K et al. (2021) Cancer-related FGFR2 overexpression and gene amplification in Japanese patients with gastric cancer. Jpn J Clin Oncol 51:1523-1533.