Jackson-Weiss, syndrome

[MIM 123 150]

Prevalence < 1/1.106. Initially described in an Amish family (see this term). Autosomal dominant transmission of a mutation of the FGR2 gene (fibroblast growth factor receptor 2) on 10q26.13, or, more rarely, of the FGR1 gene on 8p11.23. Other mutations of the FGR2 gene are responsible of Crouzon syndrome (see this term). 

Clinical association of:

-        craniosynostosis the phenotype of which varies widely and includes all types of craniosynostosis

-        midface hypoplasia

-         foot abnormalities: syndactyly


Anesthetic implications: 

management of a craniosynostosis (see this term)


References : 


Updated: September 2018