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).
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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.
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Incoming links (5)
Acanthosis nigricans in hereditary syndromes; ALX3 gene ; Dysostosis craniofacialis hereditaria; Eye diseases, skin changes; FGFR2 gene;Outgoing links (4)
Acanthosis nigricans benigna; Acanthosis nigricans (overview); Apert syndrome; FGFR2 gene;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer