Crouzon syndrome



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

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

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:


 * early closure of cranial sutures
 * expanded acrocephalic skull
 * eye anomaly: exophthalmos, atrophy n. opticus, blindness, hypertelorism, divergent strabismus, nystagmus
 * hypoplasia maxilla
 * progressive intracranial hypertension